MCID: MRF001
MIFTS: 73

Marfan Syndrome malady

Categories: Genetic diseases, Rare diseases, Eye diseases, Cardiovascular diseases, Bone diseases, Fetal diseases

Aliases & Classifications for Marfan Syndrome

About this section
Sources:
50OMIM, 11Disease Ontology, 69Wikipedia, 22GeneReviews, 46NIH Rare Diseases, 23GeneTests, 24Genetics Home Reference, 13DISEASES, 52Orphanet, 68UniProtKB/Swiss-Prot, 12diseasecard, 48Novoseek, 36MedlinePlus, 37MeSH, 66UMLS, 25GTR, 28ICD10, 30ICD9CM, 43NCIt, 67UMLS via Orphanet, 29ICD10 via Orphanet, 38MESH via Orphanet, 35MedGen, 60SNOMED-CT, 62The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Marfan Syndrome:

Name: Marfan Syndrome 50 11 69 22 46 23 24 13 52 68 12 48 36 37 66
Marfan's Syndrome 11 24 25
Mfs 24 52 68
Marfan Syndrome Type 1 46 68
 
Marfanoid Hypermobility Syndrome 66
Contractural Arachnodactyly 46
Mfs1 68

Characteristics:

Orphanet epidemiological data:

52
marfan syndrome:
Inheritance: Autosomal dominant; Prevalence: 1-5/10000 (Europe); Age of onset: All ages; Age of death: any age

HPO:

62
marfan syndrome:
Inheritance: autosomal dominant inheritance


Classifications:



External Ids:

OMIM50 154700
Disease Ontology11 DOID:14323
ICD1028 Q87.4, Q87.40
ICD9CM30 759.82
MeSH37 D008382
NCIt43 C34807
Orphanet52 ORPHA558
UMLS via Orphanet67 C0024796
ICD10 via Orphanet29 Q87.4
MESH via Orphanet38 D008382
MedGen35 C0024796

Summaries for Marfan Syndrome

About this section
MedlinePlus:36 Marfan syndrome is a disorder that affects connective tissue. connective tissues are proteins that support skin, bones, blood vessels, and other organs. one of these proteins is fibrillin. a problem with the fibrillin gene causes marfan syndrome. marfan syndrome can be mild to severe, and the symptoms can vary. people with marfan syndrome are often very tall, thin, and loose jointed. most people with marfan syndrome have heart and blood vessel problems, such as a weakness in the aorta or heart valves that leak. they may also have problems with their bones, eyes, skin, nervous system, and lungs. there is no single test to diagnose marfan syndrome. your doctor may use your medical history, family history, and a physical exam to diagnose it. marfan syndrome has no cure, but treatments can help delay or prevent complications. treatments include medicines, surgery, and other therapies. nih: national institute of arthritis and musculoskeletal and skin diseases

MalaCards based summary: Marfan Syndrome, also known as marfan's syndrome, is related to ectopia lentis, familial and neonatal marfan syndrome, and has symptoms including striae distensae, arachnodactyly and muscular hypotonia. An important gene associated with Marfan Syndrome is FBN1 (Fibrillin 1), and among its related pathways are NTHi-Induced Signaling and Cytokine production by Th17 cells in CF. Affiliated tissues include heart, bone and eye, and related mouse phenotypes are adipose tissue and respiratory system.

NIH Rare Diseases:46 Marfan syndrome is a disorder of the connective tissue. connective tissue provides strength and flexibility to structures throughout the body such as bones, ligaments, muscles, walls of blood vessels, and heart valves. marfan syndrome affects most organs and tissues, especially the skeleton, lungs, eyes, heart, and the large blood vessel that distributes blood from the heart to the rest of the body (the aorta). it is caused by mutations in the fbn1 gene, which provides instructions for making a protein called fibrillin-1. marfan syndrome is inherited in an autosomal dominant pattern. at least 25% of cases are due to a new mutation. treatment is symptomatic and supportive. last updated: 2/9/2016

UniProtKB/Swiss-Prot:68 Marfan syndrome: A hereditary disorder of connective tissue that affects the skeletal, ocular, and cardiovascular systems. A wide variety of skeletal abnormalities occurs with Marfan syndrome, including scoliosis, chest wall deformity, tall stature, abnormal joint mobility. Ectopia lentis occurs in most of the patients and is almost always bilateral. The leading cause of premature death is progressive dilation of the aortic root and ascending aorta, causing aortic incompetence and dissection. Neonatal Marfan syndrome is the most severe form resulting in death from cardiorespiratory failure in the first few years of life.

Genetics Home Reference:24 Marfan syndrome is a disorder that affects the connective tissue in many parts of the body. Connective tissue provides strength and flexibility to structures such as bones, ligaments, muscles, blood vessels, and heart valves. The signs and symptoms of Marfan syndrome vary widely in severity, timing of onset, and rate of progression.

OMIM:50 A heritable disorder of fibrous connective tissue, Marfan syndrome shows striking pleiotropism and clinical... (154700) more...

Wikipedia:69 Marfan syndrome (MFS) is a genetic disorder of connective tissue. The degree to which people are... more...

GeneReviews summary for NBK1335

Related Diseases for Marfan Syndrome

About this section

Diseases related to Marfan Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 204)
idRelated DiseaseScoreTop Affiliating Genes
1ectopia lentis, familial23.3ACTA2, AGTR1, BMP6, CBS, COL1A2, DCN
2neonatal marfan syndrome12.2
3marfan syndrome/loeys-dietz syndrome/familial thoracic aortic aneurysms and dissections11.9
4loeys-dietz syndrome 211.5
5mycosis fungoides11.3
6celiac trunk compression syndrome10.7TGFBR1, TGFBR2
7chromophil adenoma of the kidney10.7TGFBR1, TGFBR2
8idiopathic ventricular fibrillation, not brugada type10.6ELN, FBN1
9marburg acute multiple sclerosis10.6ELN, FBN1
10adenosine monophosphate deaminase deficiency erythrocyte type10.6TGFBR1, TGFBR2
11classic endocrine tumor of appendix10.6ELN, FBN1
12infective dermatitis associated with htlv-110.6DCN, FBN1
13acquired pseudoxanthoma elasticum10.6ELN, FBN1
14aneurysm10.6
15genetic prion diseases10.6FBN1, TGFB1
16pulmonary venous return anomaly10.5FBN1, TGFBR1, TGFBR2
17spinal cancer10.5FBN1, FBN2, TGFBR2
18cutis laxa, ad10.5ELN, FBN1
19functional diarrhea10.5CBS, FBN1
20macrocephaly mesodermal hamartoma spectrum10.4TGFB1, TGFBR1, TGFBR2
21keratopathy10.4MMP2, TGFB1
22cerebral atrophy10.4ELN, MMP2
23aortic aneurysm10.4
24acromicric dysplasia10.4COL1A2, FBN1, TGFB1
25reading disorder10.4ELN, MMP2
26fibromatosis, gingival, 110.4MMP2, TGFB1
27hodgkin's lymphoma, lymphocytic-histiocytic predominance10.4COL1A2, FBN1, TGFB1
28sclerosteosis10.4COL1A2, FBN1, FBN2
29connective tissue disease10.4
30congenital methemoglobinemia10.3AGTR1, TGFB1
31deletion 5q3510.3ELN, FBN1, MMP2
32schwannomatosis10.3ELN, FBN1, MMP2
33breast liposarcoma10.3ELN, FBN1
34fibula aplasia complex brachydactyly10.2AGTR1, TGFB1
35impetigo herpetiformis10.2ELN, FBN1, MMP2
36aortic disease10.2
37post-infectious myocarditis10.2AGTR1, TGFB1
38endemic typhus10.2FBN1, FBN2, LTBP2
39hypohidrosis10.2BMP6, TGFB1
40thoracic aortic aneurysm10.2
41poikiloderma with neutropenia10.2AGTR1, FBN1, FBN2
42twin-to-twin transfusion syndrome10.2DCN, TGFB1
43posterior uveitis10.2ELN, FBN1, LTBP2
44pauciarticular onset juvenile idiopathic arthritis10.1DCN, MMP2
45contractural arachnodactyly, congenital10.1
46potato nose10.1BMP6, FBN1
47strawberry gallbladder10.1BMP6, TGFB1
48loeys-dietz syndrome10.1
49scoliosis10.1
50meningocele10.0

Comorbidity relations with Marfan Syndrome via Phenotypic Disease Network (PDN):


Left Ventricular Outflow Tract Obstruction

Graphical network of the top 20 diseases related to Marfan Syndrome:



Diseases related to marfan syndrome

Symptoms for Marfan Syndrome

About this section

Symptoms by clinical synopsis from OMIM:

154700

Clinical features from OMIM:

154700

Symptoms:

 52 (show all 59)
  • pectus carinatum
  • striae distensae
  • arachnodactyly
  • disproportionate tall stature
  • slender build
  • pes planus
  • spontaneous pneumothorax
  • dilatation of the ascending aorta
  • chronic fatigue
  • narrow face
  • visual impairment
  • myopia
  • dental crowding
  • pectus excavatum
  • ectopia lentis
  • lens subluxation
  • joint hypermobility
  • mitral valve prolapse
  • sleep disturbance
  • scoliosis
  • high, narrow palate
  • protrusio acetabuli
  • arthralgia/arthritis
  • increased axial globe length
  • lens luxation
  • malar anomaly
  • dural ectasia
  • inguinal hernia
  • cleft palate
  • dolichocephaly
  • retrognathia
  • micrognathia
  • downslanted palpebral fissures
  • glaucoma
  • retinal detachment
  • osteopenia
  • osteoporosis
  • muscular hypotonia
  • congestive heart failure
  • emphysema
  • hemoptysis
  • meningocele
  • aneurysm of an abdominal artery
  • kyphosis
  • limited elbow movement
  • skeletal muscle atrophy
  • spondylolisthesis
  • myalgia
  • cachexia
  • mitral valve calcification
  • pulmonary artery dilatation
  • ascending aortic dissection
  • arterial dissection
  • aortic tortuosity
  • attention deficit hyperactivity disorder
  • hypoplasia of the iris
  • flat cornea
  • open bite
  • descending aortic dissection

HPO human phenotypes related to Marfan Syndrome:

(show all 94)
id Description Frequency HPO Source Accession
1 striae distensae hallmark (90%) HP:0001065
2 arachnodactyly hallmark (90%) HP:0001166
3 muscular hypotonia hallmark (90%) HP:0001252
4 disproportionate tall stature hallmark (90%) HP:0001519
5 pes planus hallmark (90%) HP:0001763
6 skeletal muscle atrophy hallmark (90%) HP:0003202
7 dilatation of the ascending aorta hallmark (90%) HP:0005111
8 narrow face typical (50%) HP:0000275
9 visual impairment typical (50%) HP:0000505
10 myopia typical (50%) HP:0000545
11 dental malocclusion typical (50%) HP:0000689
12 pectus excavatum typical (50%) HP:0000767
13 joint hypermobility typical (50%) HP:0001382
14 sleep disturbance typical (50%) HP:0002360
15 aneurysm typical (50%) HP:0002617
16 scoliosis typical (50%) HP:0002650
17 arthralgia typical (50%) HP:0002829
18 protrusio acetabuli typical (50%) HP:0003179
19 decreased body weight typical (50%) HP:0004325
20 hypoplasia of the zygomatic bone typical (50%) HP:0010669
21 dural ectasia typical (50%) HP:0100775
22 cleft palate occasional (7.5%) HP:0000175
23 dolichocephaly occasional (7.5%) HP:0000268
24 micrognathia occasional (7.5%) HP:0000347
25 glaucoma occasional (7.5%) HP:0000501
26 retinal detachment occasional (7.5%) HP:0000541
27 ectopia lentis occasional (7.5%) HP:0001083
28 limitation of joint mobility occasional (7.5%) HP:0001376
29 congestive heart failure occasional (7.5%) HP:0001635
30 abnormality of the aortic valve occasional (7.5%) HP:0001646
31 meningocele occasional (7.5%) HP:0002435
32 aortic dissection occasional (7.5%) HP:0002647
33 kyphosis occasional (7.5%) HP:0002808
34 myalgia occasional (7.5%) HP:0003326
35 hernia of the abdominal wall occasional (7.5%) HP:0004299
36 abnormality of the endocardium occasional (7.5%) HP:0004306
37 reduced bone mineral density occasional (7.5%) HP:0004349
38 arterial dissection occasional (7.5%) HP:0005294
39 attention deficit hyperactivity disorder occasional (7.5%) HP:0007018
40 flat cornea occasional (7.5%) HP:0007720
41 chest pain occasional (7.5%) HP:0100749
42 esotropia rare (5%) HP:0000565
43 exotropia rare (5%) HP:0000577
44 tall stature HP:0000098
45 narrow palate HP:0000189
46 high palate HP:0000218
47 dolichocephaly HP:0000268
48 malar flattening HP:0000272
49 narrow face HP:0000275
50 long face HP:0000276
51 retrognathia HP:0000278
52 micrognathia HP:0000347
53 deeply set eye HP:0000490
54 downslanted palpebral fissures HP:0000494
55 glaucoma HP:0000501
56 cataract HP:0000518
57 retinal detachment HP:0000541
58 myopia HP:0000545
59 dental crowding HP:0000678
60 pectus excavatum HP:0000767
61 pectus carinatum HP:0000768
62 reduced subcutaneous adipose tissue HP:0001002
63 striae distensae HP:0001065
64 ectopia lentis HP:0001083
65 arachnodactyly HP:0001166
66 flexion contracture HP:0001371
67 joint hypermobility HP:0001382
68 overgrowth HP:0001548
69 mitral valve prolapse HP:0001634
70 congestive heart failure HP:0001635
71 mitral regurgitation HP:0001653
72 aortic regurgitation HP:0001659
73 tricuspid valve prolapse HP:0001704
74 pes cavus HP:0001761
75 pes planus HP:0001763
76 hammertoe HP:0001765
77 emphysema HP:0002097
78 pneumothorax HP:0002107
79 aortic root dilatation HP:0002616
80 ascending aortic aneurysm HP:0002631
81 aortic dissection HP:0002647
82 kyphoscoliosis HP:0002751
83 genu recurvatum HP:0002816
84 premature osteoarthritis HP:0003088
85 protrusio acetabuli HP:0003179
86 decreased muscle mass HP:0003199
87 spondylolisthesis HP:0003302
88 incisional hernia HP:0004872
89 pulmonary artery dilatation HP:0004927
90 premature calcification of mitral annulus HP:0005136
91 hypoplasia of the iris HP:0007676
92 increased axial globe length HP:0007800
93 medial rotation of the medial malleolus HP:0008132
94 dural ectasia HP:0100775

Drugs & Therapeutics for Marfan Syndrome

About this section

Drugs for Marfan Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 11)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
verapamilPhase 412352-53-92520
Synonyms:
(+-)-Verapamil
(+/-)-VERAPAMIL
(1)-3-(3,4-Dimethoxyphenyl)-6-((5,6-dimethoxyphenethyl)methylamino)hexane-3-carbonitrile
2-(3,4-Dimethoxyphenyl)-5-[2-(3,4-dimethoxyphenyl)ethyl-methyl-amino]-2-(1-methylethyl) pentanenitrile
2-(3,4-dimethoxyphenyl)-5-[2-(3,4-dimethoxyphenyl)ethyl-methylamino]-2-propan-2-ylpentanenitrile
2-(3,4-dimethoxyphenyl)-5-{[2-(3,4-dimethoxyphenyl)ethyl](methyl)amino}-2-(propan-2-yl)pentanenitrile
5-((3,4-Dimethoxyphenethyl)methylamino)-2-(3,4-dimethoxyphenyl)-2-isopropylvaleronitrile
5-[(3,4-Dimethoxyphenethyl)methylamino]-2-(3,4-dimethoxyphenyl)-2-isopropylvaleronitrile
52-53-9
56949-77-0
AB00053495
AC-16016
AC1L1DV5
Akilen
Anpec
Apo-Verap
Arpamyl
Arpamyl LP
BPBio1_000268
BRD-A09533288-001-02-7
BRD-A09533288-003-05-6
BSPBio_000242
BSPBio_001513
BSPBio_002358
Berkatens
Bio-0754
Bio1_000425
Bio1_000914
Bio1_001403
Bio2_000233
Bio2_000713
C07188
C27H38N2O4
CCRIS 6749
CHEBI:9948
CHEMBL6966
CID2520
CP-16533-1
CP-165331
Calan
Calan SR
Calan sr
Calaptin
Calaptin 240 SR
Calcan
Cardiabeltin
Cardiagutt
Cardibeltin
Cardioprotect
Caveril
Civicor
Civicor Retard
Coraver
Cordilox
Cordilox SR
Corpamil
Covera-HS
Covera-Hs
Covera-hs
D-365
D02356
DB00661
Dexverapamil
Dignover
Dilacoran
Dilacoran HTA
DivK1c_000399
Drosteakard
Durasoptin
EINECS 200-145-1
EINECS 260-462-6
Elthon
FT-0080127
Falicard
Finoptin
Flamon
Geangin
HMS1791L15
HMS1989L15
HMS2089H17
Harteze
Hexasoptin
Hexasoptin Retard
Hormitol
I06-0063
IDI1_000399
IDI1_033983
Ikacor
Ikapress
Inselon
Iproveratril
Isoptimo
Isoptin
Isoptin Retard
Isoptin SR
Isoptin sr
Isoptine
Isoptino
Isotopin
Izoptin
Jenapamil
KBio1_000399
KBio2_000233
KBio2_002343
KBio2_002801
KBio2_004911
KBio2_005369
KBio2_007479
KBio3_000465
KBio3_000466
 
KBio3_002823
KBioGR_000233
KBioGR_001372
KBioGR_002343
KBioSS_000233
KBioSS_002346
L001330
LS-174
Lekoptin
Lodixal
Lopac0_001237
Magotiron
Manidon
Manidon Retard
MolPort-000-721-258
NCGC00016083-14
NCGC00024710-04
NCGC00024710-05
NCGC00024710-06
NCGC00024710-07
NCGC00024710-08
NCGC00024710-09
NCI60_020143
NINDS_000399
NSC272366
NU-Verap
Novapamyl LP
Novo-Veramil
Nu-Verap
Ormil
Praecicor
Prestwick0_000141
Prestwick1_000141
Prestwick2_000141
Prestwick3_000141
Quasar
Rapam
Robatelan
SPBio_001820
SPBio_002181
STK538085
Securon
Spectrum2_001740
Spectrum4_000906
Spectrum5_001786
Tarka
UNII-CJ0O37KU29
Univer
Univex
VERAPAMIL
Vasolan
Vasomil
Vasopten
Vera-Sanorania
Verabeta
Veracaps SR
Veracim
Veracor
Verahexal
Veraloc
Veramex
Veramil
Verapamil
Verapamil (USAN/INN)
Verapamil AL
Verapamil Acis
Verapamil Atid
Verapamil Basics
Verapamil Ebewe
Verapamil HCl
Verapamil Henning
Verapamil Injection
Verapamil MSD
Verapamil NM
Verapamil NM Pharma
Verapamil Nordic
Verapamil PB
Verapamil Riker
Verapamil SR
Verapamil Verla
Verapamil [USAN:BAN:INN]
Verapamil [USAN:INN:BAN]
Verapamil [Usan:Ban:Inn]
Verapamil-AbZ
Verapamilo
Verapamilo [INN-Spanish]
Verapamilum
Verapamilum [INN-Latin]
Verapin
Verapress 240 SR
Veraptin
Verasal
Verasifar
Veratensin
Verdilac
Verelan
Verelan PM
Verelan SR
Verexamil
Veroptinstada
Verpamil
Vetrimil
Vortac
Vérapamil
alpha-((N-Methyl-N-homoveratryl)-gamma-aminopropyl)-3,4-dimethoxyphenylacetonitrile
alpha-(3-((2-(3,4-Dimethoxyphenyl)ethyl)-methylamino)propyl)-3,4-dimethoxy-alpha-(1-methylethyl)benzeneacetonitrile
alpha-Isopropyl-alpha-((N-methyl-N-homoveratryl)-gamma-aminopropyl)-3,4-dimethoxyphenylacetonitrile
cMAP_000023
delta-365
nchembio.368-comp2
nchembio.79-comp5
2
AtenololPhase 4, Phase 3, Phase 29929122-68-72249
Synonyms:
( inverted question mark)-Atenolol
(+-)-4-(2-Hydroxy-3-isopropylaminopropoxy)phenylacetamide
(+-)-Atenolol
(+/-)-4-[2-Hydroxy-3-[(1-methylethyl)amino]propoxy]benzeneacetamide
(1)-2-(4-(2-Hydroxy-3-(isopropylamino)propoxy)phenyl)acetamide
(?)-Atenolol
1-p-Carbamoylmethylphenoxy-3-isopropylamino-2-propanol
2-(4-(2-Hydroxy-3-isopropylaminopropoxy)phenyl)acetamid
2-(4-{2-hydroxy-3-[(propan-2-yl)amino]propoxy}phenyl)acetamide
2-(p-(2-Hydroxy-3-(isopropylamino)propoxy)phenyl)acetamide
2-[4-(2-Hydroxy-3-isopropylaminopropoxy)phenyl]acetamide
2-[4-({2-hydroxy-3-[(1-methylethyl)amino]propyl}oxy)phenyl]acetamide
2-[4-[2-hydroxy-3-(propan-2-ylamino)propoxy]phenyl]acetamide
2-{4-[2-hydroxy-3-(propan-2-ylamino)propoxy]phenyl}acetamide
29122-68-7
4-(2-Hydroxy-3-((1-methylethyl)amino)propoxy)benzeneacetamide
4-[2 -Hydroxy-3 -(isopropylamino)-propoxy]phenylacetamide
4-[2'-Hydroxy-3'-(isopropylamino)propoxy]phenylacetamide
60966-51-0
A 7655
A7655_SIGMA
AC-11142
AC1L1D99
AC1Q1QBX
AKOS005111050
ARONIS23884
Acetamide,2-(p-(2-hydroxy-3-(isopropylamino)propoxy)phenyl)
Aircrit
Alinor
Altol
Anselol
Antipressan
Apo-Atenolol
Atcardil
Atecard
Atehexal
Atenblock
Atendol
Atenet
Ateni
Atenil
Atenol
Atenol 1A Pharma
Atenol 1A pharma
Atenol AL
Atenol Acis
Atenol Atid
Atenol CT
Atenol Cophar
Atenol Fecofar
Atenol GNR
Atenol Gador
Atenol Genericon
Atenol Heumann
Atenol MSD
Atenol NM Pharma
Atenol Nordic
Atenol PB
Atenol Quesada
Atenol Stada
Atenol Tika
Atenol Trom
Atenol Von CT
Atenol acis
Atenol ct
Atenol von ct
Atenol-Mepha
Atenol-Ratiopharm
Atenol-Wolff
Atenol-ratiopharm
Atenolin
Atenolol (JAN/USP)
Atenolol (JP15/USP/INN)
Atenolol [USAN:BAN:INN:JAN]
Atenolol [USAN:INN:BAN:JAN]
Atenololum
Atenololum [INN-Latin]
Atenomel
Atereal
Aterol
BB_SC-1519
BIM-0050109.0001
BRD-A20239487-001-02-5
BRN 2739235
BSPBio_002915
Betablok
Betacard
Betasyn
Betatop GE
Betatop Ge
Blocotenol
Blokium
CCRIS 4196
CHEBI:2904
CHEMBL24
CID2249
CPD000036768
Cardaxen
Cardiopress
Corotenol
Cuxanorm
D001262
D00235
DB00335
DivK1c_000057
Duraatenolol
Duratenol
 
EINECS 249-451-7
EINECS 262-544-7
EU-0100121
Evitocor
Farnormin
Felo-Bits
HMS1569L13
HMS1921H09
HMS2090I19
HMS2092D19
HMS500C19
HSDB 6526
Hipres
Hypoten
I01-3572
ICI 66,082
ICI 66082
ICI-66082
ICI66082
IDI1_000057
Ibinolo
InChI=1/C14H22N2O3/c1-10(2)16-8-12(17)9-19-13-5-3-11(4-6-13)7-14(15)18/h3-6,10,12,16-17H,7-9H2,1-2H3,(H2,15,18)
Internolol
Jenatenol
Juvental
KBio1_000057
KBio2_001844
KBio2_004412
KBio2_006980
KBio3_002415
KBioGR_000790
KBioSS_001844
L000116
LS-28557
LS-9707
Lo-Ten
Lo-ten
Lopac0_000121
Loten
Lotenal
MLS000069622
MLS001066372
MLS001074163
MLS001304038
MolPort-001-792-717
Myocord
NCGC00015007-07
NCGC00015007-13
NCGC00024566-03
NCGC00024566-04
NCGC00024566-05
NCGC00024566-06
NCGC00024566-07
NINDS_000057
Neatenol
Normalol
Normiten
Noten
Oprea1_448775
Oraday
Ormidol
Panapres
Plenacor
Premorine
Prenolol
Prenormine
Prinorm
SAM002564193
SMR000036768
SPBio_001482
SPECTRUM1501127
STK528649
Scheinpharm Atenol
Seles Beta
Seles beta
Selobloc
Serten
Servitenol
Spectrum2_001411
Spectrum3_001448
Spectrum4_000435
Spectrum5_001509
Spectrum_001364
Stermin
Tenidon
Teno-Basan
Teno-basan
Tenobloc
Tenoblock
Tenolol
Tenoprin
Tenoretic
Tenormin
Tenormin (TN)
Tenormine
Tenormine [French]
Tensimin
Tensotin
Tredol
UNII-50VV3VW0TI
Unibloc
Uniloc
Vascoten
Vericordin
Wesipin
Xaten
atenolol
benzeneacetamide, 4-[2'-hydroxy-3
duratenol
3
protease inhibitorsPhase 4, Phase 35157
Synonyms:
 
protease inhibitors
4
PerindoprilPhase 4, Phase 346107133-36-8, 82834-16-0107807
Synonyms:
(2S)-2-[(1S)-1-Carbethoxybutylamino]-1-oxopropyl-(2S,3aS,7aS)-perhydroindole-2-carboxylic acid
(2S,3AS,7as)-1-[(2S)-2-{[(2S)-1-ethoxy-1-oxopentan-2-yl]amino}propanoyl]octahydro-1H-indole-2-carboxylic acid
(2S,3aS,7aS)-1-[(2S)-2-[[(2S)-1-ethoxy-1-oxopentan-2-yl]amino]propanoyl]-2,3,3a,4,5,6,7,7a-octahydroindole-2-carboxylic acid
(2S,3aS,7aS)-1-[(2S)-2-{[(2S)-1-ethoxy-1-oxopentan-2-yl]amino}propanoyl]octahydro-1H-indole-2-carboxylic acid
82834-16-0
82834-16-0 (Parent)
99149-83-4
AC1L32S9
ACEON
Aceon
BIDD:GT0786
BRD-K92731339-227-02-3
BSPBio_003206
C07706
C19H32N2O5
CHEBI:8024
CHEMBL1581
CID107807
Coverene Cor
Coverex
Coversum
Coversyl
D03753
DB00790
DW-7950
 
KBio2_002494
KBio2_005062
KBio2_007630
KBio3_002426
KBioGR_001190
KBioSS_002502
LS-178402
MLS002154153
McN-A-2833
MolPort-005-935-307
PERINDOPRIL
Perindopril (USAN/INN)
Perindopril Erbumine
Perindoprilum
Prestarium
S-9490
SED-9490
SMR001233453
SPBio_001216
Spectrum2_001108
Spectrum3_001683
Spectrum4_000775
Spectrum5_001689
Spectrum_001948
cpd with unspecified MF
ethyl N-{(2S)-1-[(2S,3aS,7aS)-2-carboxyoctahydro-1H-indol-1-yl]-1-oxopropan-2-yl}-L-norvalinate
5calcium channel blockersPhase 41889
6
LosartanPhase 3, Phase 2281114798-26-43961
Synonyms:
(2-Butyl-4-chloro-1-{[2'-(1H-tetrazol-5-yl)biphenyl-4-yl]methyl}-1H-imidazol-5-yl)methanol
(2-butyl-4-chloro-1-{[2'-(1H-tetrazol-5-yl)[1,1'-biphenyl]-4-yl]methyl}-1H-imidazol-5-yl)methanol
(2-butyl-4-chloro-1-{[2'-(1H-tetrazol-5-yl)biphenyl-4-yl]methyl}-1H-imidazol-5-yl)methanol
114798-26-4
124750-99-8 (mono-potassium salt)
1H-Imidazole-5-methanol, 2-butyl-4-chloro-1-[[2'-(1H-tetrazol-5-yl)[1,1'-biphenyl]-4-yl]methyl]- (9CI)
2-Butyl-4-chloro-1-((2'-(1H-etrazol-5-yl) (1,1'-biphenyl)-4-yl)methyl)-1H-imidazole-5-methanol
2-Butyl-4-chloro-1-[[2'-(1H-tetrazol-5-yl)[1,1'-biphenyl]-4-yl]methyl-1H-imidazole-5-methanol
2-N-Butyl-4-chloro-5-hydroxymethyl-1-[(2'-(1H-tetrazol-5-yl)biphenyl-4-yl)methyl]imidazole
2-butyl-4-chloro-1-[p-(o-1H-tetrazol-5ylphenyl)benzyl]imidazole-5-methanol
2-n-butyl-4-chloro-5-hydroxymethyl-1-[(2'-(1H-tetrazol-5-yl)biphenyl-4-yl)methyl]imidazole
2-n-butyl-4-chloro-5-hydroxymethyl-1-[[2'-(1H-tetrazol-5-yl)-biphenyl-4-yl]methyl]imidazole
AC1L1H3Q
BIDD:GT0286
BRD-K76205745-001-02-5
BSPBio_002695
C07072
C22H23ClN6O
CHEBI:6541
CHEMBL191
CID3961
CL23623
Cozaar
D08146
DB00678
DUP 89
DuP 89
DuP-753
HMS1922J13
HMS2093E22
Hyzaar
I14-9710
Jsp001094
KBio2_002193
 
KBio2_004761
KBio2_007329
KBio3_001915
KBioGR_001611
KBioSS_002193
L000351
LOSARTAN POTASSIUM
LS-78746
Lacidipine
Lortaan
Losartan
Losartan (INN)
Losartan Potassium
Losartan [INN:BAN]
Losartan monopotassium salt
Losartic
Losartic (TN)
MK-954
MK954
MolPort-003-666-553
NCGC00095125-01
NCGC00095125-02
NCGC00095125-03
Oprea1_644635
SPBio_001893
SPECTRUM1504268
Spectrum2_001677
Spectrum3_000998
Spectrum4_001126
Spectrum5_001466
Spectrum_001713
UNII-JMS50MPO89
[2-butyl-5-chloro-3-[[4-[2-(2H-tetrazol-5-yl)phenyl]phenyl]methyl]imidazol-4-yl]methanol
losartan
losartan potassium
7
angiotensin IIPhase 3, Phase 2113568521-88-0, 11128-99-7172198, 65143
Synonyms:
1-8-Angiotensin I
1-L-Aspasaginyl-5-L-valyl angiotensin octapeptide
Ang II
Angiotensin 2
Angiotensin II (human)
 
Angiotensin II (mouse)
Angiotonin
Asp-arg-val-TYR-ile-his-pro-phe
Human angiotensin II
Hypertensin
Ile(5)-angiotensin II
8
NebivololPhase 382152520-56-4, 99200-09-6, 118457-14-071301
Synonyms:
1,1'-Bis(6-fluoro-3,4-dihydro-2H-1-benzopyran-2-yl)-2,2'-iminodiethanol
1,1'-[Bis(6-fluoro-3,4-dihydro-2H-1-benzopyran-2-yl)]-2,2'-iminodiethanol
1-(6-fluoro-3,4-dihydro-2H-chromen-2-yl)-2-[[2-(6-fluoro-3,4-dihydro-2H-chromen-2-yl)-2-hydroxyethyl]amino]ethanol
104365-59-5
118457-14-0
2,2'-iminobis[1-(6-fluoro-3,4-dihydro-2H-chromen-2-yl)ethanol]
99200-09-6
AC-1611
AC1L2FX8
AC1Q4OMF
Bystolic
C22H25F2NO4
CHEMBL434394
CID71301
D05127
DB04861
I06-0378
L001284
LS-178404
Lobivon
MolPort-003-849-343
Narbivolol
 
Nebicard-5
Nebilet
Nebilong
Nebipill
Nebivolol
Nebivolol (USAN/INN)
Nebivolol [USAN:INN:BAN]
Nebivololum
Nebivololum [Latin]
Nebivololum [latin]
Nubeta
PDSP1_000244
PDSP2_000243
PI-21858
R 67555
R-67555
R65,824
UNII-030Y90569U
alpha,alpha'-(Iminobis(methylene))bis(6-fluoro-3,4-dihydro-2H-1-benzopyran-2-methanol)
alpha,alpha'-(Iminodimethylene)bis(6-fluoro-2-chromanmethanol)
alpha,alpha'-(iminobis(methylene))bis(6-fluoro-3,4-dihydro)-2H-1-benzopyran-2-methanol
alpha,alpha'-(iminobismethylene)bis-(6-fluoro-3,4-dihydro-2H-1-benzopyran-2-methanol)
alpha,alpha'-(iminodimethylene)bis-(6-fluoro-2-chromanmethanol)
9
IrbesartanPhase 299138402-11-63749
Synonyms:
138402-11-6
2-Butyl-3-(p-(o-1H-tetrazol-5-ylphenyl)benzyl)-1,3-diazaspiro(4.4)non-1-en-4-one
2-Butyl-3-[2'-(1H-tetrazol-5-yl)biphenyl-4-ylmethyl]1,3-diaza-spiro[4.4]non-1-en-4-one
2-Butyl-3-{[2'-(1H-tetrazol-5-yl)biphenyl-4-yl]methyl}-1,3-diazaspiro[4.4]non-1-en-4-one
2-butyl-3-[ p -( o -1 H -tetrazol-5-ylphenyl)benzyl]-1,3-diazaspiro[4,4]non-1-en-4-one
2-butyl-3-[2'-(1h-tetrazol-5-yl)-biphenyl-4-ylmethyl]-1,3-diaza-spiro[
2-butyl-3-[2'-(1h-tetrazol-5-yl)biphenyl-4-ylmethyl]1,3-diaza-spiro[
2-butyl-3-[p-(o-1H-tetrazol-5-ylphenyl)benzyl]-1,3-diazaspiro[4.4]non-1-en-4-one
2-butyl-3-{[2'-(1H-tetrazol-5-yl)[1,1'-biphenyl]-4-yl]methyl}-1,3-diazaspiro[4.4]non-1-en-4-one
2-butyl-3-{[2'-(1H-tetrazol-5-yl)biphenyl-4-yl]methyl}-1,3-diazaspiro[4.4]non-1-en-4-one
2-n-butyl-3-((2'-(1H-tetrazol-5-yl)biphenyl-4-yl)methyl)-1,3-diazaspiro(4,4)non-1-en-4-one
8-butyl-7-[[4-[2-(2H-tetrazol-5-yl)phenyl]phenyl]methyl]-7,9-diazaspiro[4.4]non-8-en-6-one
AC-537
AC1L1GMK
Aprovel
Avalide
Avapro
Avapro (TN)
BIDD:GT0347
BMS 186295
BMS Brand of Irbesartan
BMS-186295
BMS-186295, SR-47436, Aprovel, Karvea, Irbesartan
BRD-K60038276-001-02-5
BSPBio_002687
Bio-0053
Bristol Myers Brand of Irbesartan
C07469
C081309
C25H28N6O
CHEBI:5959
CHEMBL1513
CID3749
CPD000466306
D00523
DB01029
HMS1922J05
HMS2051L08
HMS2093E16
 
I06-0690
Irbesarran
Irbesartan
Irbesartan (JAN/USAN/INN)
Irbesartan [USAN:INN]
Irbesartan [Usan:Inn]
Irbetan
Jsp002315
KBio2_002231
KBio2_004799
KBio2_007367
KBio3_001907
KBioGR_001603
KBioSS_002231
Karvea
L000319
LS-60064
Lrbesartan
MLS000759408
MLS001424099
MolPort-003-666-550
NCGC00095122-01
NCGC00095122-02
NCGC00095122-03
S1507_Selleck
SAM001246548
SMR000466306
SPBio_001889
SPECTRUM1504259
SR 47436
SR-47436
STK645362
Sanofi Winthrop Brand of Irbesartan
Spectrum2_001675
Spectrum3_000994
Spectrum4_001122
Spectrum5_001288
Spectrum_001751
TL8000875
UNII-J0E2756Z7N
irbesartan
10
PropranololPhase 2210525-66-64946
Synonyms:
(+-)-Propranolol
(1)-1-(Isopropylamino)-3-(naphthyloxy)propan-2-ol
(R)-(+)-propranolol
(S)-(-)-PROPRANOLOL
1-((1-Methylethyl)amino)-3-(1-naphthalenyloxy)-2-propanol
1-(1-Naphthyloxy)-2-hydroxy-3-(isopropylamino)propane
1-(Isopropylamino)-3-(1-naphthoxy)-propan-2-ol
1-(Isopropylamino)-3-(1-naphthyloxy)-2-propanol
1-(isopropylamino)-3-(1-naphthyloxy)propan-2-ol
1-(naphthalen-1-yloxy)-3-(propan-2-ylamino)propan-2-ol
1-Isopropylamino-3-(1-naphthyloxy)-2-propanol
1-[(1-methylethyl)amino]-3-(naphthalen-1-yloxy)propan-2-ol
1-naphthalen-1-yloxy-3-(propan-2-ylamino)propan-2-ol
13013-17-7
2-Propanol, 1-((1-methylethyl)amino)-3-(1-naphthalenyloxy)- (9CI)
2-Propanol, 1-((1-methylethyl)amino)-3-(1-naphthalenyloxy)-, (+-)- (9CI)
3-(naphthalen-1-yloxy)-1-(propan-2-ylamino)propan-2-ol
4199-09-1
4199-10-4
525-66-6
AB00053537
AC1L1JA4
AC1Q1QBV
AC1Q1QC0
AKOS000588816
AY 64043
AY-20694
Anaprilin
Anapriline
Angilol
Apsolol
Avlocardyl
BPBio1_001040
BRD-A10070317-003-06-9
BSPBio_000944
BSPBio_002682
Bedranol
Beprane
Berkolol
Beta Neg
Beta-Neg
Beta-Propranolol
Beta-Tablinen
Beta-Timelets
Betachron
Betadren
Betalong
Bio-0732
Bio1_000367
Bio1_000856
Bio1_001345
C07407
C16H21NO2
CBDivE_006180
CCRIS 3082
CHEBI:8499
CHEMBL27
CID4946
Cardinol
Caridolol
Corpendol
D,L-Propranolol
D08443
DB00571
DL-Propranolol hydrochloride
Deralin
DivK1c_000023
Dl-Propranolol Hydrochloride
Dociton
Duranol
EINECS 208-378-0
EINECS 235-867-6
Efektolol
Elbrol
Etalong
Euprovasin
Frekven
HMS2090L21
Herzbase
ICI 45520
IDI1_000023
INDERIDE-40/25
INDERIDE-80/25
Ikopal
Inderal
Inderal La
Inderal hydrochloride
Inderalici
Inderex
Inderide
Inderol
Indobloc
InnoPranXL
 
Innopran XL
Intermigran
KBio1_000023
KBio2_002515
KBio2_005083
KBio2_007651
KBio3_001766
KBio3_001902
KBio3_002993
KBioGR_001347
KBioGR_001684
KBioGR_002515
KBioSS_002523
Kemi
Kemi S
L000679
LS-122410
LS-184129
Lopac0_000896
Migrastat
MolPort-001-794-623
NCGC00015798-07
NCGC00024690-02
NCGC00024690-03
NINDS_000023
NSC91523
Naprilin
Obsidan
Obzidan
Oposim
Oprea1_304193
PDSP1_000767
PDSP1_001607
PDSP1_001608
PDSP2_000755
PDSP2_001591
PDSP2_001592
Prano-Puren
Pranolol
Prestwick0_000952
Prestwick1_000952
Prestwick2_000952
Prestwick3_000952
Pronovan
Propanalol
Propanix
Propanolol
Propanolol [INN-Spanish]
Prophylux
Propranalol
Propranolol
Propranolol (INN)
Propranolol (TN)
Propranolol Hcl
Propranolol Hcl Intensol
Propranolol Hydrochloride
Propranolol [INN:BAN]
Propranololo
Propranololo [DCIT]
Propranololum
Propranololum [INN-Latin]
Propranur
Proprasylyt
Pylapron
R,S-Propranolol Hydrochloride
Racemic propranolol
Rapynogen
Reducor
Reducor Line
Reducor line
SPBio_001361
SPBio_001658
SPBio_003093
STK735510
Sagittol
Sawatal
Servanolol
Sloprolol
Spectrum2_001301
Spectrum2_001699
Spectrum3_000883
Spectrum3_001071
Spectrum4_000974
Spectrum4_001222
Spectrum5_000751
Sumial
Tesnol
UNII-9Y8NXQ24VQ
b-Propranolol
beta-Propranolol
cMAP_000071
etalong
propranolol
propranololo
β-Propranolol
11
DoxycyclinePhase 2232564-25-054671203
Synonyms:
(2E,4S,4aR,5S,5aR,6R,12aS)-2-[amino(hydroxy)methylidene]-4-(dimethylamino)-5,10,11,12a-tetrahydroxy-6-methyl-4a,5,5a,6-tetrahydro-4H-tetracene-1,3,12-trione
(2Z)-2-[amino(hydroxy)methylidene]-4-(dimethylamino)-5,10,11,12a-tetrahydroxy-6-methyl-4a,5,5a,6-tetrahydro-4H-tetracene-1,3,12-trione
(2Z,4S,4aR,5S,5aR,6R)-2-[amino(hydroxy)methylidene]-4-(dimethylamino)-5,10,11,12a-tetrahydroxy-6-methyl-4a,5,5a,6-tetrahydro-4H-tetracene-1,3,12-trione
(2Z,4S,4aR,5S,5aR,6R,12aS)-2-[amino(hydroxy)methylidene]-4-(dimethylamino)-5,10,11,12a-tetrahydroxy-6-methyl-4a,5,5a,6-tetrahydro-4H-tetracene-1,3,12-trione
(4S,4AR,5S,5ar,6R,12as)-4-(dimethylamino)-3,5,10,12,12a-pentahydroxy-6-methyl-1,11-dioxo-1,4,4a,5,5a,6,11,12a-octahydrotetracene-2-carboxamide
(4S,4aR,5S,5aR,6R,12aS)-4-(dimethylamino)-3,5,10,12,12a-pentahydroxy-6-methyl-1,11-dioxo-1,4,4a,5,5a,6,11,12a-octahydrotetracene-2-carboxamide
10597-92-9
17086-28-1 (mono-hydrate)
2-Naphthacenecarboxamide, 4-(dimethylamino)-1,4,4a,5,5a,6,11,12a-octahydro-3,5,10,12,12a-pentahydroxy-6-methyl-1,11-dioxo-, (4S,4aR,5S,5aR,6R,12aS)
24390-14-5
41411-66-9 (6-epimer, mono-hydrochloride)
5-Hydroxy-alpha-6-deoxytetracycline
564-25-0
6-Deoxyoxytetracycline
6-Deoxytetracycline
6-alpha-Deoxy-5-oxytetracycline
6-alpha-deoxy-5-oxytetracycline
69935-17-7 (mono-hydrochloride, di-hydrate)
6alpha-Deoxy-5-oxytetracycline
6α-deoxy-5-oxytetracycline
7164-70-7
7264-10-0
94088-85-4 (calcium salt (1:2))
AB08 (*Fosfatex)
AC1NQXW7
AC1NS4CW
AC1NUYS8
AC1O8PYM
Alti-Doxycycline
Apo-Doxy
Atridox
Azudoxat
BCBcMAP01_000024
BIDD:GT0146
BMY-28689
BPBio1_000951
BSPBio_000863
BSPBio_001936
BU-3839T
C06973
CHEBI:50845
CHEMBL1433
CID5281011
CID5353597
CID5463943
CID6713981
CPD001550033
D07876
DB00254
DMSC (*Fosfatex)
DOXCYCLINE ANHYDROUS
DOXY
DOXYCYCLINE CALCIUM
DOXYCYCLINE MONOHYDRATE
Deoxymykoin
DivK1c_000345
Dossiciclina
Dossiciclina [DCIT]
Doxcycline anhydrous
Doxiciclina
Doxiciclina [INN-Spanish]
Doxiciclina [Italian]
Doxitard
Doxivetin
Doxy-Caps
Doxy-Puren
Doxy-Tabs
Doxycen
Doxychel
Doxychel (TN)
Doxycin
Doxycyclin
Doxycycline (200mg/day) or Placebo
Doxycycline (INN)
 
Doxycycline (TN)
Doxycycline (anhydrous)
Doxycycline (internal use)
Doxycycline Hyclate
Doxycycline Monohydrate
Doxycycline anhydrous
Doxycycline hyclate
Doxycycline-Chinoin
Doxycyclinum
Doxycyclinum [INN-Latin]
Doxysol
Doxytec
Doxytetracycline
EINECS 209-271-1
GS-3065 (*monohydrate)
HMS2090E06
HSDB 3071
Hydramycin
IDI1_000345
Investin
Jenacyclin
KBio1_000345
KBio2_001287
KBio2_003855
KBio2_006423
KBio3_001156
KBioGR_001133
KBioSS_001287
LS-187766
LS-93868
Liviatin
Lopac0_000405
MolPort-002-507-423
Monodox
Monodox (*monohydrate)
NCGC00161602-01
NCGC00161602-03
NCGC00161602-04
NCGC00167961-01
NCGC00179395-01
NINDS_000345
NSC633557
Novo-Doxylin
Nu-Doxycycline
Oracea
Prestwick0_000852
Prestwick1_000852
Prestwick2_000852
Prestwick3_000852
Ronaxan
SAM002589932
SMP1_000107
SPBio_000246
SPBio_002784
STOCK1N-34341
Spanor
Spectrum2_000143
Spectrum3_000408
Spectrum4_000527
Spectrum5_000947
Spectrum_000807
Supracyclin
UNII-334895S862
UPCMLD-DP021
UPCMLD-DP021:001
Vibra-tabs
Vibramycin
Vibramycin (*monohydrate)
Vibramycin Novum
Vibramycine
Vibravenos
Vivox (*Hyclate)
alpha-6-Deoxy-5-hydroxytetracycline
alpha-6-Deoxyoxytetracycline
alpha-Doxycycline
doxycycline

Interventional clinical trials:

(show all 30)
idNameStatusNCT IDPhase
1Comparison of Medical Therapies in Marfan Syndrome.CompletedNCT01295047Phase 4
2Angiotensin Converting Enzyme Inhibitors in Marfan SyndromeCompletedNCT00485368Phase 3
3Effects of Losartan Versus Atenolol on Aortic and Cardiac Muscle Stiffness in Adults With Marfan SyndromeCompletedNCT00723801Phase 3
4Comparison of Two Medications Aimed at Slowing Aortic Root Enlargement in Individuals With Marfan Syndrome--Pediatric Heart NetworkCompletedNCT00429364Phase 3
5Comparison Study of the Effect of Aliskiren Versus Negative Controls on Aortic Stiffness in Patients With Marfan Syndrome Under Treatment With AtenololRecruitingNCT01715207Phase 3
6Randomized, Double-blind Study for the Evaluation of the Effect of Losartan Versus Placebo on Aortic Root Dilatation in Patients With Marfan Syndrome Under Treatment With Beta-blockersRecruitingNCT00782327Phase 3
7Nebivolol Versus Losartan Versus Nebivolol+Losartan Against Aortic Root Dilation in Genotyped Marfan PatientsRecruitingNCT00683124Phase 3
8Artisan Aphakia Lens for the Correction of Aphakia in ChildrenRecruitingNCT01547442Phase 3
9Atenolol Versus Losartan in the Prevention of Progressive Dilation of the Aorta in Marfan SyndromeActive, not recruitingNCT01145612Phase 3
10Study of the Efficacy of Losartan on Aortic Dilatation in Patients With Marfan SyndromeTerminatedNCT00763893Phase 3
11Circulating Transforming Growth Factor Beta (TGF-β) in Individuals With Marfan SyndromeWithdrawnNCT01361087Phase 3
12Losartan Versus Atenolol for the Treatment of Marfan SyndromeCompletedNCT00593710Phase 2
13A Randomized, Open-label, LOSARTAN Therapy on the Progression of Aortic Root Dilation in Patients With Marfan SyndromeRecruitingNCT00651235Phase 2
14The Oxford Marfan TrialRecruitingNCT01949233Phase 2
15Clinical Study of the Efficacy and Safety of the Application of Allogeneic Mesenchymal (Stromal) Cells of Bone Marrow, Cultured Under the Hypoxia in the Treatment of Patients With Severe Pulmonary EmphysemaRecruitingNCT01849159Phase 1, Phase 2
16Aortopathy in Persons With Bicuspid Aortic Valve, Turner and Marfan SyndromeCompletedNCT01760668
17Clinical Variability in Marfan SyndromeCompletedNCT01707563
18Study of Heritable Connective Tissue DisordersCompletedNCT00001641
19Studies of Heritable Disorders of Connective TissueCompletedNCT00270686
20Family Myopia StudyCompletedNCT00341549
21Development of a Blood Test for Marfan SyndromeRecruitingNCT02148900
22Generation of Marfan Syndrome and Fontan Cardiovascular Models Using Patient-specific Induced Pluripotent Stem CellsRecruitingNCT02815072
23Micro RNAs as a Marker of Aortic Aneurysm in Hereditary Aortopathy SyndromesRecruitingNCT02213484
24Genetic Study of the FBN1 Gene and Fibrillin-1 Abnormalities in Choctaw Native Americans and Other Patients With Systemic SclerosisRecruitingNCT00006393
25Risk of Rupture of Aneurysms of the Thoracic Ascending Aorta (ATA) From the Dynamic ImagingRecruitingNCT02538822
26Exercise Stress MRI to Evaluate Aortic Function (Compliance, Distensibility, Pulse Wave Velocity) and Left Ventricular Function : Validation in Healthy Volunteers and in Selected Patients. A Pilot Study.RecruitingNCT02018835
27Screening for Thoracic Aortic Aneurysm Among a Cohort of Patients With a Degenerative Abdominal Aortic AneurysmRecruitingNCT01599533
28Thoracic Aortic Dilatation SyndromesActive, not recruitingNCT02111668
29National Registry of Genetically Triggered Thoracic Aortic Aneurysms and Cardiovascular ConditionsActive, not recruitingNCT01322165
30Real-time 3-Dimensional Echocardiography for Assessment of Cardiac Function and Congenital Heart DiseaseWithdrawnNCT01300221

Search NIH Clinical Center for Marfan Syndrome


Cochrane evidence based reviews: marfan syndrome

Genetic Tests for Marfan Syndrome

About this section

Genetic tests related to Marfan Syndrome:

id Genetic test Affiliating Genes
1 Marfan Syndrome25 23 FBN1

Anatomical Context for Marfan Syndrome

About this section

MalaCards organs/tissues related to Marfan Syndrome:

34
Heart, Bone, Eye, Lung, Testes, Skin, Spinal cord

Animal Models for Marfan Syndrome or affiliated genes

About this section

MGI Mouse Phenotypes related to Marfan Syndrome:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053758.6AGTR1, COL1A2, FBN1, TGFB1, TGFBR2
2MP:00053888.0DCN, FBN1, FBN2, LTBP2, MMP2, TGFB1
3MP:00053917.6ACTA2, DCN, FBN2, LTBP2, MMP2, TGFB1
4MP:00053697.4ACTA2, COL1A2, DCN, FBN1, FBN2, MMP2
5MP:00053907.3BMP6, COL1A2, DCN, FBN1, FBN2, MMP2
6MP:00107686.7AGTR1, COL1A2, DCN, FBN1, FBN2, LTBP2
7MP:00053856.4ACTA2, AGTR1, COL1A2, FBN1, FBN2, LTBP2
8MP:00053786.2AGTR1, BMP6, COL1A2, DCN, FBN1, FBN2

Publications for Marfan Syndrome

About this section

Articles related to Marfan Syndrome:

(show top 50)    (show all 862)
idTitleAuthorsYear
1
Neonatal Marfan Syndrome: Report of a Case with an Inherited Splicing Mutation outside the Neonatal Domain. (27022329)
2016
2
Eligibility and Disqualification Recommendations for Competitive Athletes With Cardiovascular Abnormalities: TaskA Force 7: Aortic Diseases, IncludingA Marfan Syndrome: A Scientific Statement From the American Heart Association and American College of Cardiology. (26542664)
2015
3
Genetic analysis of the contribution of LTBP-3 to thoracic aneurysm in Marfan syndrome. (26494287)
2015
4
Whole exome sequencing confirms the clinical diagnosis of Marfan syndrome combined with X-linked hypophosphatemia. (26040324)
2015
5
Regional changes in elastic fiber organization and transforming growth factor I^ signaling in aortas from a mouse model of marfan syndrome. (25238995)
2014
6
The prevalence of bronchiectasis in patients with Marfan syndrome. (25199019)
2014
7
Retrospective analysis of the effect of angiotensin II receptor blocker versus I^-blocker on aortic root growth in paediatric patients with Marfan syndrome. (24270746)
2014
8
Angiotensin receptor blockers: a panacea for Marfan syndrome and related disorders? (25281853)
2014
9
Results of modern mitral valve repair in patients with marfan syndrome. (23839872)
2014
10
MRI-assessed regional pulse wave velocity for predicting absence of regional aorta luminal growth in marfan syndrome. (23000269)
2013
11
Antagonism of GxxPG fragments ameliorates manifestations of aortic disease in Marfan syndrome mice. (23100322)
2013
12
Marfan syndrome: a review of the literature and case report. (23980558)
2013
13
First report of the genetic background of Marfan syndrome in two Polish patients. (24162367)
2013
14
Usefulness of losartan on the size of the ascending aorta in an unselected cohort of children, adolescents, and young adults with Marfan syndrome. (23871676)
2013
15
Marfan syndrome teaching algorithm: does it make a difference? (23481878)
2013
16
A rare case of Marfan syndrome and concomitant alpha-1 antitrypsin deficiency. (24025392)
2013
17
Identification of an FBN1 mutation in bovine Marfan syndrome-like disease. (22221020)
2012
18
Mid-term results of different aortic valve-sparing procedures in Marfan syndrome. (22645855)
2012
19
Novel de novo nonsense mutation of FBN1 gene in a patient with Marfan syndrome. (22942097)
2012
20
Marfan syndrome: report of two cases with review of literature. (22960978)
2012
21
Evaluating Japanese patients with the Marfan syndrome using high-throughput microarray-based mutational analysis of fibrillin-1 gene. (21907952)
2011
22
Echocardiographic findings in children with Marfan syndrome. (21161115)
2011
23
Comparison of the background, needs, and expectations for genetic counseling of adults with experience with Down syndrome, Marfan syndrome, and neurofibromatosis. (21344640)
2011
24
Comparison of aortic dissection in Chinese patients with and without Marfan syndrome. (21273360)
2011
25
Surgical management of aortic root disease in Marfan syndrome: a systematic review and meta-analysis. (21228428)
2011
26
The Marfan syndrome - features, natural history and treatment options - our experiences. (21617273)
2011
27
Effectiveness of combination of losartan potassium and doxycycline versus single-drug treatments in the secondary prevention of thoracic aortic aneurysm in Marfan syndrome. (20189193)
2010
28
Large pulmonary artery aneurysm associated with Marfan syndrome. (22477577)
2010
29
Aortic valve sparing procedure combined with sternal turnover for Marfan syndrome. (20678110)
2010
30
Outcomes of iris-claw anterior chamber versus iris-fixated foldable intraocular lens in subluxated lens secondary to Marfan syndrome. (20466427)
2010
31
External aortic root support for Marfan syndrome. (21127328)
2010
32
Increased homocysteine in a patient diagnosed with Marfan syndrome. (21030686)
2010
33
Co-expression of FBN1 with mesenchyme-specific genes in mouse cell lines: implications for phenotypic variability in Marfan syndrome. (20551991)
2010
34
Quantitative analysis of TGFBR2 mutations in Marfan-syndrome-related disorders suggests a correlation between phenotypic severity and Smad signaling activity. (21098638)
2010
35
Characteristics in phenotypic manifestations of genetically proved Marfan syndrome in a Japanese population. (19361604)
2009
36
Increased prevalence of migraine in Marfan syndrome. (18678417)
2009
37
Chest pain in Marfan syndrome. (21686816)
2009
38
Bilateral radial artery aneurysms in the anatomical snuff box seen in marfan syndrome patient: case report and literature review. (23555380)
2009
39
Proximal aortic perforation after endovascular repair of a type B dissection in a patient with Marfan syndrome. (19446984)
2009
40
Assessment of carotid compliance using real time vascular ultrasound image analysis in Marfan syndrome. (19054030)
2009
41
Marfan syndrome. (19958417)
2009
42
Spontaneous intracranial hypotension syndrome in a patient with marfan syndrome and autosomal dominant polycystic kidney disease. (18194297)
2008
43
Search for correlations between FBN1 genotype and complete Ghent phenotype in 44 unrelated Norwegian patients with Marfan syndrome. (17663468)
2007
44
Effect of perindopril on large artery stiffness and aortic root diameter in patients with Marfan syndrome: a randomized controlled trial. (17911499)
2007
45
Application of dHPLC for mutation detection of the fibrillin-1 gene for the diagnosis of Marfan syndrome in a National Health Service Laboratory. (17627385)
2007
46
Immunohistochemical evaluation of conjunctival fibrillin-1 in Marfan syndrome. (16476890)
2006
47
Cardiac transplantation in neonatal Marfan syndrome -- a life-saving approach. (15704038)
2005
48
Plain radiography of the lumbosacral spine in Marfan syndrome. (14589463)
2002
49
Molecular genetics of Marfan syndrome and Ehlers-Danlos type IV. (9649943)
1998
50
Missense mutations impair intracellular processing of fibrillin and microfibril assembly in Marfan syndrome. (8111384)
1993

Variations for Marfan Syndrome

About this section

UniProtKB/Swiss-Prot genetic disease variations for Marfan Syndrome:

68 (show all 320)
id Symbol AA change Variation ID SNP ID
1FBN1p.Cys111ArgVAR_002276
2FBN1p.Arg122CysVAR_002277rs137854467
3FBN1p.Cys129TyrVAR_002278
4FBN1p.Cys166PheVAR_002279
5FBN1p.Cys166SerVAR_002280
6FBN1p.Trp217GlyVAR_002281
7FBN1p.Cys476GlyVAR_002282
8FBN1p.Asp490TyrVAR_002283
9FBN1p.Arg545CysVAR_002284
10FBN1p.Asn548IleVAR_002285rs137854462
11FBN1p.Cys587TyrVAR_002286
12FBN1p.Arg627CysVAR_002287
13FBN1p.Cys661ArgVAR_002288
14FBN1p.Ala705ThrVAR_002289
15FBN1p.Cys711TyrVAR_002290
16FBN1p.Asp723AlaVAR_002291rs137854463
17FBN1p.Tyr746CysVAR_002292
18FBN1p.Cys750GlyVAR_002293
19FBN1p.Cys862ArgVAR_002294
20FBN1p.Cys926ArgVAR_002295
21FBN1p.Val984IleVAR_002296
22FBN1p.Cys996ArgVAR_002297rs140592
23FBN1p.Gly1013ArgVAR_002298rs140593
24FBN1p.Lys1023AsnVAR_002299
25FBN1p.Lys1043ArgVAR_002300rs137854472
26FBN1p.Ile1048ThrVAR_002301
27FBN1p.Cys1053ArgVAR_002303
28FBN1p.Cys1055GlyVAR_002304
29FBN1p.Asp1072GlyVAR_002306
30FBN1p.Glu1073LysVAR_002307rs137854478
31FBN1p.Cys1074ArgVAR_002308rs137854465
32FBN1p.Cys1086TrpVAR_002309
33FBN1p.Cys1117GlyVAR_002310
34FBN1p.Cys1117TyrVAR_002311rs137854470
35FBN1p.Gly1127SerVAR_002312rs137854468
36FBN1p.Arg1137ProVAR_002314rs137854456
37FBN1p.Cys1153TyrVAR_002316rs140599
38FBN1p.Asp1155AsnVAR_002317
39FBN1p.Arg1170HisVAR_002318rs137854475
40FBN1p.Cys1171TrpVAR_002319
41FBN1p.Asn1173LysVAR_002320
42FBN1p.Cys1223TyrVAR_002321rs137854469
43FBN1p.Cys1242TyrVAR_002322rs137854471
44FBN1p.Cys1249SerVAR_002323rs137854458
45FBN1p.Asn1382SerVAR_002324
46FBN1p.Asp1404TyrVAR_002325
47FBN1p.Cys1513ArgVAR_002326
48FBN1p.Cys1589PheVAR_002327
49FBN1p.Cys1610GlyVAR_002328
50FBN1p.Cys1663ArgVAR_002329rs137854459
51FBN1p.Pro1837SerVAR_002330
52FBN1p.Asn1893LysVAR_002331
53FBN1p.Cys1928ArgVAR_002332
54FBN1p.Cys2099TrpVAR_002333
55FBN1p.Cys2111TyrVAR_002334
56FBN1p.Asp2127GluVAR_002335
57FBN1p.Asn2144SerVAR_002336rs137854461
58FBN1p.Cys2151TrpVAR_002337
59FBN1p.Cys2221SerVAR_002338rs137854460
60FBN1p.Cys2258ArgVAR_002339
61FBN1p.Arg2282TrpVAR_002340
62FBN1p.Cys2307SerVAR_002341rs137854457
63FBN1p.Glu2447LysVAR_002342rs137854464
64FBN1p.Cys2489ArgVAR_002343
65FBN1p.Cys2511ArgVAR_002344
66FBN1p.His2623ProVAR_002345
67FBN1p.Gly2627ArgVAR_002346
68FBN1p.Arg2680CysVAR_002347
69FBN1p.Cys504PheVAR_010776
70FBN1p.Cys1129TyrVAR_010777rs137854482
71FBN1p.Tyr1261CysVAR_010778
72FBN1p.Cys1833SerVAR_010779
73FBN1p.Cys2142TyrVAR_010780
74FBN1p.Arg62CysVAR_017967rs25403
75FBN1p.Cys89PheVAR_017968rs112660651
76FBN1p.Arg114CysVAR_017969
77FBN1p.Cys154SerVAR_017971
78FBN1p.Arg240CysVAR_017972rs137854480
79FBN1p.Trp366CysVAR_017973
80FBN1p.Gly560SerVAR_017974
81FBN1p.Cys570TyrVAR_017975
82FBN1p.Gly592AspVAR_017976
83FBN1p.Cys596TyrVAR_017977
84FBN1p.Cys598TrpVAR_017978
85FBN1p.Cys652SerVAR_017979
86FBN1p.Asp654AsnVAR_017980
87FBN1p.Ser681TyrVAR_017982
88FBN1p.Cys683ArgVAR_017983
89FBN1p.Cys685TrpVAR_017984rs140603
90FBN1p.Asp723ValVAR_017985
91FBN1p.Cys734PheVAR_017986
92FBN1p.Cys748TyrVAR_017987
93FBN1p.Cys776GlyVAR_017988
94FBN1p.Cys776TyrVAR_017989
95FBN1p.Cys781ArgVAR_017990
96FBN1p.Cys816SerVAR_017991
97FBN1p.Cys890ArgVAR_017992
98FBN1p.Cys908ArgVAR_017993
99FBN1p.Glu913GlyVAR_017994
100FBN1p.Cys921GlyVAR_017995
101FBN1p.Gly985ArgVAR_017996
102FBN1p.Cys1044TyrVAR_017997
103FBN1p.Cys1055TrpVAR_017998
104FBN1p.Cys1055TyrVAR_017999
105FBN1p.Tyr1101CysVAR_018000
106FBN1p.Glu1200GlyVAR_018002
107FBN1p.Glu1325GlnVAR_018003
108FBN1p.Ala1337ProVAR_018004
109FBN1p.Cys1339TyrVAR_018005
110FBN1p.Glu1366LysVAR_018006
111FBN1p.Cys1374SerVAR_018007
112FBN1p.Cys1389ArgVAR_018008
113FBN1p.Pro1424AlaVAR_018010
114FBN1p.Cys1429SerVAR_018011
115FBN1p.Cys1564TyrVAR_018013
116FBN1p.Cys1770PheVAR_018015
117FBN1p.Arg1790ProVAR_018016
118FBN1p.Cys1791TyrVAR_018017
119FBN1p.Cys1793TrpVAR_018018
120FBN1p.Gly1796GluVAR_018019
121FBN1p.Cys1806SerVAR_018020
122FBN1p.Cys1835TyrVAR_018021rs111929350
123FBN1p.Ile1909ThrVAR_018022
124FBN1p.Arg1915SerVAR_018023
125FBN1p.Cys1971TyrVAR_018025
126FBN1p.Cys1977TyrVAR_018026
127FBN1p.Cys1998TyrVAR_018027
128FBN1p.Cys2111ArgVAR_018029rs363815
129FBN1p.Cys2221GlyVAR_018031
130FBN1p.Asn2223HisVAR_018032
131FBN1p.Ile2269ThrVAR_018033
132FBN1p.Arg2335TrpVAR_018034
133FBN1p.Cys2406TyrVAR_018036
134FBN1p.Cys2442TrpVAR_018037
135FBN1p.Tyr2474CysVAR_018038
136FBN1p.Cys2581PheVAR_018039
137FBN1p.Ile2585ThrVAR_018040
138FBN1p.Gly2618ArgVAR_018041rs141133182
139FBN1p.Asn2624LysVAR_018042
140FBN1p.Cys2652GlyVAR_018043
141FBN1p.Gly2668CysVAR_018044
142FBN1p.Gly985GluVAR_018319rs137854477
143FBN1p.Cys1265ArgVAR_018320rs137854474
144FBN1p.Tyr20CysVAR_023859
145FBN1p.Cys123TyrVAR_023860
146FBN1p.Cys177ArgVAR_023861rs363853
147FBN1p.Cys224ArgVAR_023862
148FBN1p.Arg439GlyVAR_023863
149FBN1p.Cys541TyrVAR_023865
150FBN1p.Tyr635CysVAR_023868
151FBN1p.Arg636IleVAR_023869
152FBN1p.Cys781TyrVAR_023870
153FBN1p.Cys832TyrVAR_023871
154FBN1p.Cys890GlyVAR_023872
155FBN1p.Gly1058AspVAR_023873
156FBN1p.Asp1113ValVAR_023874
157FBN1p.Cys1153SerVAR_023875
158FBN1p.Tyr1219CysVAR_023877
159FBN1p.Tyr1261AspVAR_023878
160FBN1p.Cys1278SerVAR_023879
161FBN1p.Cys1284GlyVAR_023880
162FBN1p.Cys1333SerVAR_023881
163FBN1p.Cys1402ArgVAR_023882
164FBN1p.Pro1424SerVAR_023883
165FBN1p.Gly1475GluVAR_023884
166FBN1p.Gly1475SerVAR_023885
167FBN1p.Cys1564PheVAR_023886
168FBN1p.Met1576ThrVAR_023887
169FBN1p.Cys1631GlyVAR_023888
170FBN1p.Cys1663TyrVAR_023889
171FBN1p.Cys1791ArgVAR_023890
172FBN1p.Cys1806TyrVAR_023891
173FBN1p.Cys1876TyrVAR_023892rs112728248
174FBN1p.Thr1887IleVAR_023893
175FBN1p.Cys1895ArgVAR_023894
176FBN1p.Cys1900TyrVAR_023895
177FBN1p.Cys1928GlyVAR_023896
178FBN1p.Cys1928TyrVAR_023897
179FBN1p.Cys2038TyrVAR_023898rs363804
180FBN1p.Cys2085ArgVAR_023899
181FBN1p.Ala2160ProVAR_023900
182FBN1p.Cys2221PheVAR_023901
183FBN1p.Cys2251ArgVAR_023902rs112836174
184FBN1p.Ala2385ThrVAR_023903
185FBN1p.Cys2500ArgVAR_023904
186FBN1p.Cys2500TyrVAR_023905
187FBN1p.Cys2535TrpVAR_023906rs113544411
188FBN1p.Gly2536ArgVAR_023907
189FBN1p.Glu2570LysVAR_023908
190FBN1p.Cys2571ArgVAR_023909
191FBN1p.Cys2592SerVAR_023910
192FBN1p.Cys2605TyrVAR_023912
193FBN1p.Glu2610LysVAR_023913rs111984349
194FBN1p.Tyr2629CysVAR_023914
195FBN1p.Cys2663SerVAR_023915
196FBN1p.Cys1068GlyVAR_064503
197FBN1p.Cys80GlyVAR_065981
198FBN1p.Cys499TyrVAR_065982
199FBN1p.Cys611ArgVAR_065983
200FBN1p.Cys617GlyVAR_065984
201FBN1p.Cys685TyrVAR_065985
202FBN1p.Cys790TyrVAR_065986
203FBN1p.Cys811TyrVAR_065987
204FBN1p.Cys853SerVAR_065988
205FBN1p.Cys926TyrVAR_065989
206FBN1p.Pro1090SerVAR_065990
207FBN1p.Gly1185AspVAR_065991
208FBN1p.Cys1284TyrVAR_065992
209FBN1p.Cys1350PheVAR_065993
210FBN1p.Thr1401AlaVAR_065994
211FBN1p.Cys1431TrpVAR_065995rs112375043
212FBN1p.Cys1431TyrVAR_065996
213FBN1p.Asp1487AlaVAR_065998
214FBN1p.Asn1489LysVAR_065999
215FBN1p.Gly1838CysVAR_066000
216FBN1p.Cys1934SerVAR_066001
217FBN1p.Glu1976GlyVAR_066002
218FBN1p.Cys1984ArgVAR_066003
219FBN1p.Asp2166AsnVAR_066004
220FBN1p.Ile2185ThrVAR_066005
221FBN1p.Asp2247GlyVAR_066006
222FBN1p.Cys2318ArgVAR_066007rs111588631
223FBN1p.Cys2442SerVAR_066008
224FBN1p.Cys2646ArgVAR_066010
225FBN1p.Gly55GluVAR_075985
226FBN1p.Asn57AspVAR_075986
227FBN1p.Cys100TyrVAR_075989
228FBN1p.Cys136SerVAR_075991
229FBN1p.Cys177SerVAR_075994
230FBN1p.Cys177TyrVAR_075995
231FBN1p.Gly214SerVAR_075996
232FBN1p.His219GlnVAR_075998
233FBN1p.Cys365ArgVAR_076003
234FBN1p.Val449IleVAR_076007
235FBN1p.Cys474TrpVAR_076008
236FBN1p.Cys488ArgVAR_076009
237FBN1p.Cys546TrpVAR_076011
238FBN1p.Cys576TyrVAR_076013
239FBN1p.Cys582ArgVAR_076014
240FBN1p.Cys623PheVAR_076016
241FBN1p.Cys684TyrVAR_076020
242FBN1p.Cys699SerVAR_076021
243FBN1p.Gly721CysVAR_076022
244FBN1p.Cys727TyrVAR_076023
245FBN1p.Cys816ArgVAR_076025
246FBN1p.Phe828CysVAR_076026
247FBN1p.Gly880SerVAR_076028
248FBN1p.Ala882ValVAR_076029
249FBN1p.Gly884GluVAR_076030
250FBN1p.Cys908TyrVAR_076031
251FBN1p.Asp910HisVAR_076032
252FBN1p.Arg974CysVAR_076037
253FBN1p.Arg976HisVAR_076038
254FBN1p.Cys1008TyrVAR_076041
255FBN1p.Cys1032TyrVAR_076044
256FBN1p.Gly1042SerVAR_076045
257FBN1p.Cys1074TyrVAR_076046
258FBN1p.Asn1088IleVAR_076048
259FBN1p.Cys1117ArgVAR_076049
260FBN1p.His1130ProVAR_076051
261FBN1p.Cys1138TyrVAR_076053
262FBN1p.Glu1158GlyVAR_076055
263FBN1p.Cys1182TrpVAR_076056
264FBN1p.Asp1199AlaVAR_076057
265FBN1p.Cys1223ArgVAR_076058
266FBN1p.Cys1249ArgVAR_076059
267FBN1p.Cys1265TyrVAR_076060
268FBN1p.Cys1307TyrVAR_076061
269FBN1p.Cys1320ArgVAR_076062
270FBN1p.Cys1326ArgVAR_076063
271FBN1p.Phe1346LeuVAR_076064
272FBN1p.Cys1402TyrVAR_076065
273FBN1p.Tyr1427AspVAR_076067
274FBN1p.Cys1485ArgVAR_076068
275FBN1p.Asp1528TyrVAR_076069
276FBN1p.Cys1622ArgVAR_076073
277FBN1p.Asp1642GlyVAR_076075
278FBN1p.Cys1672ArgVAR_076077
279FBN1p.Cys1672TyrVAR_076078
280FBN1p.Cys1674GlyVAR_076079
281FBN1p.Cys1720TyrVAR_076081
282FBN1p.Cys1793TyrVAR_076085
283FBN1p.Gly1796ValVAR_076087
284FBN1p.Glu1811LysVAR_076088
285FBN1p.Cys1812ArgVAR_076089
286FBN1p.Asn1826SerVAR_076091
287FBN1p.Ser1830CysVAR_076092
288FBN1p.Cys1835PheVAR_076093
289FBN1p.Cys1847ArgVAR_076094
290FBN1p.Cys1847TrpVAR_076095
291FBN1p.Cys1860TyrVAR_076096
292FBN1p.Cys1865ArgVAR_076097
293FBN1p.Gly1879AspVAR_076098
294FBN1p.Glu1894LysVAR_076099
295FBN1p.Thr1908IleVAR_076101
296FBN1p.Gly1919AspVAR_076102
297FBN1p.Cys1934GlyVAR_076104
298FBN1p.Cys1977ArgVAR_076105
299FBN1p.Cys1977TrpVAR_076106
300FBN1p.Gly1987ArgVAR_076107
301FBN1p.Cys2084TrpVAR_076113
302FBN1p.Cys2084TyrVAR_076114
303FBN1p.Ile2118MetVAR_076116
304FBN1p.Glu2130LysVAR_076117
305FBN1p.Asn2144AspVAR_076119
306FBN1p.Thr2145ProVAR_076120
307FBN1p.Cys2153TyrVAR_076121
308FBN1p.Cys2221ArgVAR_076125
309FBN1p.Cys2232TyrVAR_076128
310FBN1p.Cys2258TyrVAR_076131
311FBN1p.Cys2274TrpVAR_076134
312FBN1p.Pro2284ThrVAR_076135
313FBN1p.Cys2470TyrVAR_076145
314FBN1p.Thr2520MetVAR_076147
315FBN1p.Cys2522TyrVAR_076148
316FBN1p.Gly2555ValVAR_076153
317FBN1p.Thr2561ProVAR_076154
318FBN1p.Cys2577ArgVAR_076156
319FBN1p.Cys2577TyrVAR_076157
320FBN1p.Asn2708SerVAR_076159

Clinvar genetic disease variations for Marfan Syndrome:

5 (show all 266)
id Gene Variation Type Significance SNP ID Assembly Location
1LTBP2NM_000428.2(LTBP2): c.1642C> T (p.Arg548Ter)single nucleotide variantPathogenicrs137854855GRCh37Chr 14, 75017811: 75017811
2FBN1NM_000138.4(FBN1): c.385T> G (p.Cys129Gly)single nucleotide variantPathogenicrs199474693GRCh38Chr 15, 48600196: 48600196
3FBN1NM_000138.4(FBN1): c.1496G> A (p.Cys499Tyr)single nucleotide variantPathogenicrs587782944GRCh38Chr 15, 48513641: 48513641
4FBN1NM_000138.4(FBN1): c.4405C> T (p.Arg1469Cys)single nucleotide variantLikely pathogenicrs587782946GRCh38Chr 15, 48470688: 48470688
5FBN1NM_000138.4(FBN1): c.5783G> T (p.Cys1928Phe)single nucleotide variantPathogenicrs587782947GRCh38Chr 15, 48446711: 48446711
6FBN1NM_000138.4(FBN1): c.8521G> T (p.Glu2841Ter)single nucleotide variantPathogenicrs587782948GRCh38Chr 15, 48411085: 48411085
7FBN1NM_000138.4(FBN1): c.1156_1167delAACAAGCTGTGC (p.Asn386_Cys389del)deletionPathogenicrs672601352GRCh38Chr 15, 48516343: 48516354
8FBN1NC_000015.10: g.(?_48411326)_(48468521_?)deldeletionPathogenicGRCh38Chr 15, 48411326: 48468521
9FBN1NM_000138.4(FBN1): c.(?_5475)_(5542_?)del (p.(?))deletionPathogenicGRCh37Chr 15, 48744762: 48744829
10FBN1NM_000138.4(FBN1): c.8080C> T (p.Arg2694Ter)single nucleotide variantPathogenicrs200309328GRCh37Chr 15, 48704912: 48704912
11FBN1NM_000138.4(FBN1): c.7754T> C (p.Ile2585Thr)single nucleotide variantLikely pathogenic, Pathogenicrs727503054GRCh37Chr 15, 48712949: 48712949
12FBN1NM_000138.4(FBN1): c.1879C> T (p.Arg627Cys)single nucleotide variantPathogenicrs727503057GRCh37Chr 15, 48797303: 48797303
13FBN1NM_000138.4(FBN1): c.164+2T> Csingle nucleotide variantLikely pathogenicrs727503058GRCh37Chr 15, 48936801: 48936801
14FBN1FBN1, 366-BP DELdeletionPathogenic
15FBN1NM_000138.4(FBN1): c.8268G> A (p.Trp2756Ter)single nucleotide variantPathogenicrs267606796GRCh37Chr 15, 48703535: 48703535
16FBN1NM_000138.4(FBN1): c.3746G> C (p.Cys1249Ser)single nucleotide variantPathogenicrs137854458GRCh37Chr 15, 48776107: 48776107
17FBN1NM_000138.4(FBN1): c.4987T> C (p.Cys1663Arg)single nucleotide variantPathogenicrs137854459GRCh37Chr 15, 48756174: 48756174
18FBN1NM_000138.4(FBN1): c.6662G> C (p.Cys2221Ser)single nucleotide variantPathogenicrs137854460GRCh37Chr 15, 48725140: 48725140
19FBN1NM_000138.4(FBN1): c.3350G> A (p.Cys1117Tyr)single nucleotide variantPathogenicrs137854470GRCh37Chr 15, 48779622: 48779622
20FBN1NM_000138.4(FBN1): c.3725G> A (p.Cys1242Tyr)single nucleotide variantPathogenicrs137854471GRCh37Chr 15, 48776128: 48776128
21FBN1NM_000138.4(FBN1): c.6339T> G (p.Tyr2113Ter)single nucleotide variantPathogenicrs267606797GRCh37Chr 15, 48729559: 48729559
22FBN1NM_000138.4(FBN1): c.6431A> G (p.Asn2144Ser)single nucleotide variantPathogenicrs137854461GRCh37Chr 15, 48729223: 48729223
23FBN1NM_000138.4(FBN1): c.1643A> T (p.Asn548Ile)single nucleotide variantPathogenicrs137854462GRCh37Chr 15, 48802312: 48802312
24FBN1NM_000138.4(FBN1): c.2168A> C (p.Asp723Ala)single nucleotide variantPathogenicrs137854463GRCh37Chr 15, 48789588: 48789588
25FBN1FBN1, 83-BP DELdeletionPathogenic
26FBN1FBN1, IVS54DS, G-C, +1, 123-BP DELdeletionPathogenic
27FBN1NM_000138.4(FBN1): c.8326C> T (p.Arg2776Ter)single nucleotide variantPathogenicrs137854466GRCh37Chr 15, 48703477: 48703477
28FBN1NM_000138.4(FBN1): c.364C> T (p.Arg122Cys)single nucleotide variantPathogenicrs137854467GRCh37Chr 15, 48892414: 48892414
29FBN1NM_000138.4(FBN1): c.3379G> A (p.Gly1127Ser)single nucleotide variantPathogenicrs137854468GRCh37Chr 15, 48779593: 48779593
30FBN1NM_000138.4(FBN1): c.3668G> A (p.Cys1223Tyr)single nucleotide variantPathogenicrs137854469GRCh37Chr 15, 48777615: 48777615
31FBN1FBN1, 1-BP DEL, 3192AdeletionPathogenic
32FBN1NM_000138.4(FBN1): c.6354C> T (p.Ile2118=)single nucleotide variantLikely pathogenic, Pathogenicrs112989722GRCh37Chr 15, 48729544: 48729544
33FBN1NM_000138.4(FBN1): c.3793T> C (p.Cys1265Arg)single nucleotide variantPathogenicrs137854474GRCh37Chr 15, 48776060: 48776060
34FBN1NM_000138.4(FBN1): c.1585C> T (p.Arg529Ter)single nucleotide variantPathogenicrs137854476GRCh37Chr 15, 48805749: 48805749
35FBN1FBN1, IVS2DS, G-A, +1single nucleotide variantPathogenic
36FBN1NM_000138.4(FBN1): c.3037G> C (p.Gly1013Arg)single nucleotide variantPathogenicrs140593GRCh37Chr 15, 48782093: 48782093
37FBN1FBN1, 33-BP INS, IVS46, G-A, +1insertionPathogenic
38FBN1NM_000138.4(FBN1): c.3217G> A (p.Glu1073Lys)single nucleotide variantPathogenicrs137854478GRCh37Chr 15, 48780430: 48780430
39FBN1FBN1, IVS46+5G-Asingle nucleotide variantPathogenic
40FBN1NM_000138.4(FBN1): c.2261A> G (p.Tyr754Cys)single nucleotide variantPathogenicrs137854479GRCh37Chr 15, 48789495: 48789495
41FBN1NM_000138.4(FBN1): c.718C> T (p.Arg240Cys)single nucleotide variantPathogenicrs137854480GRCh37Chr 15, 48829826: 48829826
42FBN1NM_000138.4(FBN1): c.3386G> A (p.Cys1129Tyr)single nucleotide variantPathogenicrs137854482GRCh37Chr 15, 48779586: 48779586
43FBN1NM_000138.4(FBN1): c.3662G> A (p.Cys1221Tyr)single nucleotide variantPathogenicrs137854483GRCh37Chr 15, 48777621: 48777621
44FBN1FBN1, 302.5-KB DELdeletionPathogenic
45FBN1FBN1, EX13-49DELdeletionPathogenic
46FBN1NM_000138.4(FBN1): c.3037G> A (p.Gly1013Arg)single nucleotide variantPathogenicrs140593GRCh37Chr 15, 48782093: 48782093
47FBN1NM_000138.4(FBN1): c.5888delA (p.Glu1963Glyfs)deletionLikely pathogenicrs727504315GRCh37Chr 15, 48737602: 48737602
48FBN1NM_000138.4(FBN1): c.5066delA (p.Asp1689Valfs)deletionLikely pathogenicrs727504347GRCh37Chr 15, 48755437: 48755437
49FBN1NM_000138.4(FBN1): c.6886C> T (p.Gln2296Ter)single nucleotide variantPathogenicrs727504410GRCh37Chr 15, 48720654: 48720654
50FBN1NM_000138.4(FBN1): c.3546C> A (p.Cys1182Ter)single nucleotide variantPathogenicrs727504411GRCh37Chr 15, 48779315: 48779315
51FBN1NM_000138.4(FBN1): c.7540G> A (p.Gly2514Arg)single nucleotide variantLikely pathogenicrs363811GRCh37Chr 15, 48714179: 48714179
52FBN1NM_000138.4(FBN1): c.8473_8475delGGA (p.Gly2825del)deletionLikely pathogenicrs727504454GRCh37Chr 15, 48703328: 48703330
53FBN1NM_000138.4(FBN1): c.8265_8266delTTinsAGGA (p.Ser2755Argfs)indelPathogenicrs727504651GRCh37Chr 15, 48703537: 48703538
54FBN1NM_000138.4(FBN1): c.3589G> C (p.Asp1197His)single nucleotide variantLikely pathogenicrs397515793GRCh37Chr 15, 48779272: 48779272
55FBN1NM_000138.4(FBN1): c.1335dupG (p.Pro446Alafs)duplicationPathogenicrs730880356GRCh37Chr 15, 48807717: 48807717
56FBN1NM_000138.4(FBN1): c.3373C> T (p.Arg1125Ter)single nucleotide variantPathogenicrs727505006GRCh38Chr 15, 48487402: 48487402
57FBN1NM_000138.4(FBN1): c.2942G> C (p.Cys981Ser)single nucleotide variantLikely pathogenicrs727505110GRCh38Chr 15, 48489991: 48489991
58FBN1NM_000138.4(FBN1): c.660delC (p.Cys221Valfs)deletionPathogenicrs727505269GRCh38Chr 15, 48537687: 48537687
59FBN1NM_000138.4(FBN1): c.6354C> G (p.Ile2118Met)single nucleotide variantLikely pathogenicrs112989722GRCh38Chr 15, 48437347: 48437347
60FBN1NM_000138.4(FBN1): c.1A> G (p.Met1Val)single nucleotide variantLikely pathogenicrs730880097GRCh38Chr 15, 48644769: 48644769
61FBN1NM_000138.4(FBN1): c.281G> T (p.Cys94Phe)single nucleotide variantLikely pathogenicrs730880098GRCh38Chr 15, 48610793: 48610793
62FBN1NM_000138.4(FBN1): c.1285C> T (p.Arg429Ter)single nucleotide variantPathogenicrs112645512GRCh38Chr 15, 48516225: 48516225
63FBN1NM_000138.4(FBN1): c.1633C> T (p.Arg545Cys)single nucleotide variantPathogenicrs730880099GRCh38Chr 15, 48510125: 48510125
64FBN1NM_000138.4(FBN1): c.3131G> A (p.Cys1044Tyr)single nucleotide variantLikely pathogenicrs730880100GRCh38Chr 15, 48488445: 48488445
65FBN1NM_000138.4(FBN1): c.4453T> C (p.Cys1485Arg)single nucleotide variantLikely pathogenicrs730880101GRCh38Chr 15, 48470640: 48470640
66FBN1NM_000138.4(FBN1): c.5280T> A (p.Tyr1760Ter)single nucleotide variantLikely pathogenicrs730880103GRCh38Chr 15, 48460262: 48460262
67FBN1NM_000138.4(FBN1): c.5861T> G (p.Phe1954Cys)single nucleotide variantLikely pathogenicrs730880104GRCh38Chr 15, 48445432: 48445432
68FBN1NM_000138.4(FBN1): c.2113+2T> Csingle nucleotide variantLikely pathogenicrs730880105GRCh38Chr 15, 48503785: 48503785
69FBN1NM_000138.4(FBN1): c.4210+1G> Asingle nucleotide variantLikely pathogenicrs730880106GRCh38Chr 15, 48474254: 48474254
70FBN1NM_000138.4(FBN1): c.6739+2T> Asingle nucleotide variantLikely pathogenicrs730880107GRCh38Chr 15, 48432864: 48432864
71FBN1NM_000138.4(FBN1): c.320_321delTA (p.Ile107Serfs)deletionLikely pathogenicrs730880108GRCh38Chr 15, 48610753: 48610754
72FBN1NM_000138.4(FBN1): c.4337-1_4337delinsTAindelLikely pathogenicGRCh38Chr 15, 48470756: 48470757
73FBN1NM_000138.4(FBN1): c.2861G> A (p.Arg954His)single nucleotide variantLikely pathogenic, Pathogenicrs112911555GRCh38Chr 15, 48490072: 48490072
74FBN1NM_000138.4(FBN1): c.7205-1G> Asingle nucleotide variantLikely pathogenic, Pathogenicrs794728266GRCh38Chr 15, 48425865: 48425865
75FBN1NM_000138.4(FBN1): c.7039_7040delAT (p.Met2347Valfs)deletionPathogenicrs794728319GRCh38Chr 15, 48427731: 48427732
76FBN1NM_000138.4(FBN1): c.1147G> A (p.Glu383Lys)single nucleotide variantLikely pathogenicrs794728325GRCh38Chr 15, 48520659: 48520659
77FBN1NM_000138.4(FBN1): c.338C> G (p.Ser113Cys)single nucleotide variantLikely pathogenicrs869025403GRCh38Chr 15, 48610736: 48610736
78FBN1NM_000138.4(FBN1): c.1909T> C (p.Cys637Arg)single nucleotide variantLikely pathogenicrs869025404GRCh38Chr 15, 48505076: 48505076
79FBN1NM_000138.4(FBN1): c.2695G> A (p.Gly899Arg)single nucleotide variantLikely pathogenicrs869025405GRCh38Chr 15, 48494237: 48494237
80FBN1NM_000138.4(FBN1): c.4815A> G (p.Glu1605=)single nucleotide variantLikely pathogenicrs869025408GRCh38Chr 15, 48465791: 48465791
81FBN1NM_000138.4(FBN1): c.6694T> C (p.Cys2232Arg)single nucleotide variantLikely pathogenicrs869025411GRCh37Chr 15, 48725108: 48725108
82FBN1NM_000138.4(FBN1): c.6820T> C (p.Cys2274Arg)single nucleotide variantLikely pathogenicrs869025412GRCh38Chr 15, 48430722: 48430722
83FBN1NM_000138.4(FBN1): c.6865T> C (p.Cys2289Arg)single nucleotide variantLikely pathogenicrs869025413GRCh37Chr 15, 48722874: 48722874
84FBN1NM_000138.4(FBN1): c.7141C> T (p.Gln2381Ter)single nucleotide variantLikely pathogenicrs869025414GRCh38Chr 15, 48427630: 48427630
85FBN1NM_000138.4(FBN1): c.7421A> G (p.Tyr2474Cys)single nucleotide variantLikely pathogenicrs869025415GRCh38Chr 15, 48425401: 48425401
86FBN1NM_000138.4(FBN1): c.7769G> A (p.Cys2590Tyr)single nucleotide variantLikely pathogenicrs869025416GRCh38Chr 15, 48420737: 48420737
87FBN1NM_000138.4(FBN1): c.8148C> G (p.Tyr2716Ter)single nucleotide variantLikely pathogenicrs112642323GRCh38Chr 15, 48412647: 48412647
88FBN1NM_000138.4(FBN1): c.8339T> C (p.Leu2780Pro)single nucleotide variantLikely pathogenicrs869025417GRCh38Chr 15, 48411267: 48411267
89FBN1NM_000138.4(FBN1): c.5918-2A> Gsingle nucleotide variantLikely pathogenicrs869025418GRCh38Chr 15, 48444662: 48444662
90FBN1NM_000138.4(FBN1): c.6739+1G> Asingle nucleotide variantLikely pathogenicrs869025419GRCh38Chr 15, 48432865: 48432865
91FBN1NM_000138.4(FBN1): c.1744_1745delTG (p.Cys582Profs)deletionLikely pathogenicrs869025420GRCh38Chr 15, 48508674: 48508675
92FBN1NM_000138.4(FBN1): c.4197delC (p.Phe1400Serfs)deletionLikely pathogenicrs869025421GRCh37Chr 15, 48766465: 48766465
93FBN1NM_000138.4(FBN1): c.7109delG (p.Gly2370Alafs)deletionLikely pathogenicrs869025422GRCh38Chr 15, 48427662: 48427662
94FBN1NM_000138.4(FBN1): c.7151_7152delTG (p.Val2384Glyfs)deletionLikely pathogenicrs869025423GRCh37Chr 15, 48719816: 48719817
95FBN1NM_000138.4(FBN1): c.7259delA (p.Asn2420Metfs)deletionLikely pathogenicrs869025424GRCh38Chr 15, 48425810: 48425810
96FBN1NM_000138.4(FBN1): c.3893dupA (p.Asn1298Lysfs)duplicationLikely pathogenicrs869025425GRCh37Chr 15, 48773923: 48773923
97FBN1NM_000138.4(FBN1): c.5016dupT (p.Ile1673Tyrfs)duplicationLikely pathogenicrs869025426GRCh37Chr 15, 48756145: 48756145
98FBN1NM_000138.4(FBN1): c.1714+2delTdeletionLikely pathogenicrs876657645GRCh37Chr 15, 48802239: 48802239
99FBN1NM_000138.4(FBN1): c.299G> A (p.Cys100Tyr)single nucleotide variantLikely pathogenicrs397515782GRCh37Chr 15, 48902972: 48902972
100FBN1NM_000138.4(FBN1): c.1916G> A (p.Cys639Tyr)single nucleotide variantLikely pathogenicrs878853676GRCh38Chr 15, 48505069: 48505069
101FBN1NM_000138.4(FBN1): c.4454G> C (p.Cys1485Ser)single nucleotide variantLikely pathogenicrs111978932GRCh38Chr 15, 48470639: 48470639
102FBN1NM_000138.4(FBN1): c.5038C> T (p.Gln1680Ter)single nucleotide variantPathogenicrs878853685GRCh37Chr 15, 48756123: 48756123
103FBN1NM_000138.4(FBN1): c.5423-?_*2684+?deldeletionPathogenic
104FBN1NM_000138.4(FBN1): c.5504G> C (p.Cys1835Ser)single nucleotide variantLikely pathogenicrs111929350GRCh38Chr 15, 48452603: 48452603
105FBN1NM_000138.4(FBN1): c.5683T> C (p.Cys1895Arg)single nucleotide variantLikely pathogenicrs878853686GRCh37Chr 15, 48739008: 48739008
106FBN1NM_000138.4(FBN1): c.732T> A (p.Cys244Ter)single nucleotide variantPathogenicrs878853689GRCh38Chr 15, 48537615: 48537615
107FBN1NM_000138.4(FBN1): c.1211delC (p.Pro404Hisfs)deletionLikely pathogenicrs112289537GRCh37Chr 15, 48808496: 48808496
108FBN1NM_000138.4(FBN1): c.1634G> A (p.Arg545His)single nucleotide variantLikely pathogenicrs193922179GRCh37Chr 15, 48802321: 48802321
109FBN1NM_000138.4(FBN1): c.1669_1677dupTGTAATGCG (p.Ala559_Gly560insCysAsnAla)duplicationLikely pathogenicrs193922181GRCh37Chr 15, 48802278: 48802286
110FBN1NM_000138.4(FBN1): c.1709delG (p.Cys570Leufs)deletionLikely pathogenicrs193922182GRCh37Chr 15, 48802246: 48802246
111FBN1NM_000138.4(FBN1): c.1710T> A (p.Cys570Ter)single nucleotide variantLikely pathogenicrs193922183GRCh37Chr 15, 48802245: 48802245
112FBN1NM_000138.4(FBN1): c.1948C> T (p.Arg650Cys)single nucleotide variantLikely pathogenicrs193922185GRCh37Chr 15, 48797234: 48797234
113FBN1NM_000138.4(FBN1): c.2055C> G (p.Cys685Trp)single nucleotide variantPathogenicrs140603GRCh37Chr 15, 48796042: 48796042
114FBN1NM_000138.4(FBN1): c.2057C> A (p.Ala686Asp)single nucleotide variantLikely pathogenicrs193922186GRCh37Chr 15, 48796040: 48796040
115FBN1NM_000138.4(FBN1): c.2186delT (p.Leu729Glnfs)deletionLikely pathogenicrs193922187GRCh37Chr 15, 48789570: 48789570
116FBN1NM_000138.4(FBN1): c.2369G> C (p.Cys790Ser)single nucleotide variantLikely pathogenicrs193922188GRCh37Chr 15, 48788347: 48788347
117FBN1NM_000138.4(FBN1): c.2433C> A (p.Cys811Ter)single nucleotide variantLikely pathogenicrs193921256GRCh37Chr 15, 48787772: 48787772
118FBN1NM_000138.4(FBN1): c.2479T> C (p.Ser827Pro)single nucleotide variantLikely pathogenicrs193922189GRCh37Chr 15, 48787726: 48787726
119FBN1NM_000138.4(FBN1): c.2508T> A (p.Ser836Arg)single nucleotide variantLikely pathogenicrs193922190GRCh37Chr 15, 48787697: 48787697
120FBN1NM_000138.4(FBN1): c.2542A> C (p.Thr848Pro)single nucleotide variantLikely pathogenicrs193922191GRCh37Chr 15, 48787455: 48787455
121FBN1NM_000138.4(FBN1): c.266G> C (p.Cys89Ser)single nucleotide variantLikely pathogenicrs112660651GRCh37Chr 15, 48903005: 48903005
122FBN1NM_000138.4(FBN1): c.2677G> C (p.Asp893His)single nucleotide variantLikely pathogenicrs193922193GRCh37Chr 15, 48787320: 48787320
123FBN1NM_000138.4(FBN1): c.2682delC (p.Ile895Tyrfs)deletionLikely pathogenicrs193922194GRCh37Chr 15, 48786447: 48786447
124FBN1NM_000138.4(FBN1): c.2855-1G> Csingle nucleotide variantLikely pathogenicrs112202622GRCh37Chr 15, 48782276: 48782276
125FBN1NM_000138.4(FBN1): c.3026C> G (p.Pro1009Arg)single nucleotide variantLikely pathogenicrs148076256GRCh37Chr 15, 48782104: 48782104
126FBN1NM_000138.4(FBN1): c.3140_3141delCC (p.Thr1047Asnfs)deletionLikely pathogenicrs193922197GRCh37Chr 15, 48780632: 48780633
127FBN1NM_000138.4(FBN1): c.3193delG (p.Glu1065Lysfs)deletionLikely pathogenicrs193922198GRCh37Chr 15, 48780580: 48780580
128FBN1NM_000138.4(FBN1): c.3478G> T (p.Glu1160Ter)single nucleotide variantLikely pathogenicrs193922199GRCh37Chr 15, 48779383: 48779383
129FBN1NM_000138.4(FBN1): c.4165T> G (p.Cys1389Gly)single nucleotide variantLikely pathogenicrs193922203GRCh37Chr 15, 48766497: 48766497
130FBN1NM_000138.4(FBN1): c.4460-8G> Asingle nucleotide variantLikely pathogenic, Pathogenicrs193922204GRCh37Chr 15, 48760739: 48760739
131FBN1NM_000138.4(FBN1): c.4467T> A (p.Asn1489Lys)single nucleotide variantLikely pathogenicrs193922205GRCh37Chr 15, 48760724: 48760724
132FBN1NM_000138.4(FBN1): c.454A> T (p.Ser152Cys)single nucleotide variantLikely pathogenicrs193922206GRCh37Chr 15, 48888564: 48888564
133FBN1NM_000138.4(FBN1): c.4588C> T (p.Arg1530Cys)single nucleotide variantPathogenicrs111401431GRCh37Chr 15, 48760294: 48760294
134FBN1NM_000138.4(FBN1): c.4684T> A (p.Cys1562Ser)single nucleotide variantLikely pathogenicrs193922207GRCh37Chr 15, 48760198: 48760198
135FBN1NM_000138.4(FBN1): c.4786C> T (p.Arg1596Ter)single nucleotide variantPathogenicrs113871094GRCh37Chr 15, 48758017: 48758017
136FBN1NM_000138.4(FBN1): c.484G> A (p.Ala162Thr)single nucleotide variantLikely pathogenicrs193922210GRCh37Chr 15, 48888534: 48888534
137FBN1NM_000138.4(FBN1): c.510C> G (p.Tyr170Ter)single nucleotide variantLikely pathogenicrs111671429GRCh37Chr 15, 48888508: 48888508
138FBN1NM_000138.4(FBN1): c.5521_5528delTTCACCTC (p.Phe1841Hisfs)deletionLikely pathogenicrs193922212GRCh37Chr 15, 48744776: 48744783
139FBN1NM_000138.4(FBN1): c.5552A> G (p.Asn1851Ser)single nucleotide variantLikely pathogenicrs193922214GRCh37Chr 15, 48741084: 48741084
140FBN1NM_000138.4(FBN1): c.556T> C (p.Cys186Arg)single nucleotide variantLikely pathogenicrs193922215GRCh37Chr 15, 48829988: 48829988
141FBN1NM_000138.4(FBN1): c.5671G> C (p.Asp1891His)single nucleotide variantLikely pathogenicrs193922216GRCh37Chr 15, 48740965: 48740965
142FBN1NM_000138.4(FBN1): c.56C> T (p.Ser19Phe)single nucleotide variantLikely pathogenicrs193922218GRCh37Chr 15, 48936911: 48936911
143FBN1NM_000138.4(FBN1): c.6006_6012dupTGGATAC (p.Ser2005Trpfs)duplicationLikely pathogenicrs193922220GRCh37Chr 15, 48736763: 48736769
144FBN1NM_000138.4(FBN1): c.6385G> T (p.Asp2129Tyr)single nucleotide variantLikely pathogenicrs193922223GRCh37Chr 15, 48729269: 48729269
145FBN1NM_000138.4(FBN1): c.649T> G (p.Trp217Gly)single nucleotide variantLikely pathogenicrs193922224GRCh37Chr 15, 48829895: 48829895
146FBN1NM_000138.4(FBN1): c.6553_6556dupATTG (p.Gly2186Aspfs)duplicationLikely pathogenicrs193922225GRCh37Chr 15, 48726851: 48726854
147FBN1NM_000138.4(FBN1): c.6704delG (p.Gly2235Aspfs)deletionLikely pathogenicrs193922226GRCh37Chr 15, 48725098: 48725098
148FBN1NM_000138.4(FBN1): c.6793_6800dupTGCAAGAA (p.Leu2268Alafs)duplicationLikely pathogenicrs193922227GRCh37Chr 15, 48722939: 48722946
149FBN1NM_000138.4(FBN1): c.6806T> C (p.Ile2269Thr)single nucleotide variantLikely pathogenic, Pathogenicrs193922228GRCh37Chr 15, 48722933: 48722933
150FBN1NM_000138.4(FBN1): c.6970G> A (p.Ala2324Thr)single nucleotide variantLikely pathogenicrs148831709GRCh37Chr 15, 48720570: 48720570
151FBN1NM_000138.4(FBN1): c.7072G> A (p.Val2358Ile)single nucleotide variantLikely pathogenicrs140537304GRCh37Chr 15, 48719896: 48719896
152FBN1NM_000138.4(FBN1): c.7229A> C (p.His2410Pro)single nucleotide variantLikely pathogenicrs193922230GRCh37Chr 15, 48718037: 48718037
153FBN1NM_000138.4(FBN1): c.7412C> G (p.Pro2471Arg)single nucleotide variantLikely pathogenicrs193922233GRCh37Chr 15, 48717607: 48717607
154FBN1NM_000138.4(FBN1): c.7666T> G (p.Phe2556Val)single nucleotide variantLikely pathogenicrs193922234GRCh37Chr 15, 48713788: 48713788
155FBN1NM_000138.4(FBN1): c.7678delC (p.Gln2560Argfs)deletionLikely pathogenicrs193922235GRCh37Chr 15, 48713776: 48713776
156FBN1NM_000138.4(FBN1): c.7726C> T (p.Arg2576Cys)single nucleotide variantLikely pathogenic, Pathogenicrs147195031GRCh37Chr 15, 48712977: 48712977
157FBN1NM_000138.4(FBN1): c.7806G> A (p.Trp2602Ter)single nucleotide variantLikely pathogenic, Pathogenicrs193922236GRCh37Chr 15, 48712897: 48712897
158FBN1NM_000138.4(FBN1): c.7879G> A (p.Gly2627Arg)single nucleotide variantLikely pathogenicrs193922239GRCh37Chr 15, 48707905: 48707905
159FBN1NM_000138.4(FBN1): c.7898G> C (p.Cys2633Ser)single nucleotide variantLikely pathogenicrs193922240GRCh37Chr 15, 48707886: 48707886
160FBN1NM_000138.4(FBN1): c.7999G> A (p.Glu2667Lys)single nucleotide variantLikely pathogenicrs149062442GRCh37Chr 15, 48707785: 48707785
161FBN1NM_000138.4(FBN1): c.8203delG (p.Glu2735Lysfs)deletionLikely pathogenicrs193922241GRCh37Chr 15, 48704789: 48704789
162FBN1NM_000138.4(FBN1): c.83A> G (p.Asn28Ser)single nucleotide variantLikely pathogenicrs193922245GRCh37Chr 15, 48936884: 48936884
163FBN1NM_000138.4(FBN1): c.8412_8417delTAAAAT (p.Lys2805_Ile2806del)deletionLikely pathogenicrs193922246GRCh37Chr 15, 48703386: 48703391
164FBN1NM_000138.4(FBN1): c.2920C> T (p.Arg974Cys)single nucleotide variantPathogenicrs397514558GRCh37Chr 15, 48782210: 48782210
165FBN1NM_000138.4(FBN1): c.4253_4259delGCCAGTG (p.Gly1418Alafs)deletionPathogenicrs398122934GRCh37Chr 15, 48764825: 48764831
166FBN1NM_000138.4(FBN1): c.1051C> T (p.Gln351Ter)single nucleotide variantPathogenicrs397515753GRCh37Chr 15, 48812952: 48812952
167FBN1NM_000138.4(FBN1): c.1192A> T (p.Arg398Ter)single nucleotide variantPathogenicrs397515754GRCh37Chr 15, 48808515: 48808515
168FBN1NM_000138.4(FBN1): c.1095C> A (p.Cys365Ter)single nucleotide variantPathogenicrs397515755GRCh37Chr 15, 48812908: 48812908
169FBN1NM_000138.4(FBN1): c.1148-2A> Gsingle nucleotide variantPathogenicrs397515756GRCh37Chr 15, 48808561: 48808561
170FBN1NM_000138.4(FBN1): c.1468+5G> Asingle nucleotide variantPathogenicrs397515757GRCh37Chr 15, 48807579: 48807579
171FBN1NM_000138.4(FBN1): c.1546C> T (p.Arg516Ter)single nucleotide variantPathogenicrs113812345GRCh37Chr 15, 48805788: 48805788
172FBN1NM_000138.4(FBN1): c.1561_1562delAG (p.Ser521Hisfs)deletionLikely pathogenicrs397515758GRCh37Chr 15, 48805772: 48805773
173FBN1NM_000138.4(FBN1): c.1601G> A (p.Cys534Tyr)single nucleotide variantLikely pathogenicrs397515759GRCh37Chr 15, 48802354: 48802354
174FBN1NM_000138.4(FBN1): c.1837+1G> Tsingle nucleotide variantLikely pathogenicrs397515762GRCh37Chr 15, 48800778: 48800778
175FBN1NM_000138.4(FBN1): c.184C> T (p.Arg62Cys)single nucleotide variantPathogenicrs25403GRCh37Chr 15, 48905270: 48905270
176FBN1NM_000138.4(FBN1): c.185G> A (p.Arg62His)single nucleotide variantLikely pathogenicrs145942328GRCh37Chr 15, 48905269: 48905269
177FBN1NM_000138.4(FBN1): c.2242T> C (p.Cys748Arg)single nucleotide variantLikely pathogenicrs397515765GRCh37Chr 15, 48789514: 48789514
178FBN1NM_000138.4(FBN1): c.2341T> C (p.Cys781Arg)single nucleotide variantPathogenicrs397515766GRCh37Chr 15, 48788375: 48788375
179FBN1NM_000138.4(FBN1): c.239G> A (p.Cys80Tyr)single nucleotide variantLikely pathogenicrs397515767GRCh37Chr 15, 48905215: 48905215
180FBN1NM_000138.4(FBN1): c.2407A> T (p.Lys803Ter)single nucleotide variantPathogenicrs397515768GRCh37Chr 15, 48788309: 48788309
181FBN1NM_000138.4(FBN1): c.2412_2413delAT (p.Cys805Terfs)deletionPathogenicrs397515769GRCh37Chr 15, 48788303: 48788304
182FBN1NM_000138.4(FBN1): c.2447G> C (p.Cys816Ser)single nucleotide variantLikely pathogenicrs397515770GRCh37Chr 15, 48787758: 48787758
183FBN1NM_000138.4(FBN1): c.2448C> G (p.Cys816Trp)single nucleotide variantLikely pathogenicrs397515771GRCh37Chr 15, 48787757: 48787757
184FBN1NM_000138.4(FBN1): c.247+1G> Asingle nucleotide variantPathogenicrs25404GRCh37Chr 15, 48905206: 48905206
185FBN1NM_000138.4(FBN1): c.2488T> G (p.Cys830Gly)single nucleotide variantLikely pathogenicrs397515773GRCh37Chr 15, 48787717: 48787717
186FBN1NM_000138.4(FBN1): c.2489G> C (p.Cys830Ser)single nucleotide variantLikely pathogenicrs397515774GRCh37Chr 15, 48787716: 48787716
187FBN1NM_000138.4(FBN1): c.2495G> A (p.Cys832Tyr)single nucleotide variantLikely pathogenicrs397515775GRCh37Chr 15, 48787710: 48787710
188FBN1NM_000138.4(FBN1): c.2496T> G (p.Cys832Trp)single nucleotide variantLikely pathogenicrs397515776GRCh37Chr 15, 48787709: 48787709
189FBN1NM_000138.4(FBN1): c.268_269delGGinsC (p.Gly90Argfs)indelLikely pathogenicrs397515778GRCh37Chr 15, 48903002: 48903003
190FBN1NM_000138.4(FBN1): c.2691dupT (p.Lys898Terfs)duplicationLikely pathogenicrs397515779GRCh37Chr 15, 48786438: 48786438
191FBN1NM_000138.4(FBN1): c.2833delG (p.Ala945Profs)deletionLikely pathogenicrs397515781GRCh37Chr 15, 48784679: 48784679
192FBN1NM_000138.4(FBN1): c.2855-1G> Asingle nucleotide variantPathogenicrs112202622GRCh37Chr 15, 48782276: 48782276
193FBN1NM_000138.4(FBN1): c.2927G> A (p.Arg976His)single nucleotide variantLikely pathogenicrs140954477GRCh37Chr 15, 48782203: 48782203
194FBN1NM_000138.4(FBN1): c.299G> T (p.Cys100Phe)single nucleotide variantLikely pathogenicrs397515782GRCh37Chr 15, 48902972: 48902972
195FBN1NM_000138.4(FBN1): c.3012C> G (p.Tyr1004Ter)single nucleotide variantLikely pathogenicrs397515784GRCh37Chr 15, 48782118: 48782118
196FBN1NM_000138.4(FBN1): c.32_42delTGGGATTTACC (p.Leu11Argfs)deletionLikely pathogenicrs397515785GRCh37Chr 15, 48936925: 48936935
197FBN1NM_000138.4(FBN1): c.3164G> A (p.Cys1055Tyr)single nucleotide variantPathogenicrs397515786GRCh37Chr 15, 48780609: 48780609
198FBN1NM_000138.4(FBN1): c.3274delG (p.Asp1092Thrfs)deletionPathogenicrs397515788GRCh37Chr 15, 48780373: 48780373
199FBN1NM_000138.4(FBN1): c.3337+1G> Asingle nucleotide variantLikely pathogenicrs397515789GRCh37Chr 15, 48780309: 48780309
200FBN1NM_000138.4(FBN1): c.3392A> G (p.Asn1131Ser)single nucleotide variantLikely pathogenicrs397515790GRCh37Chr 15, 48779580: 48779580
201FBN1NM_000138.4(FBN1): c.3413G> T (p.Cys1138Phe)single nucleotide variantLikely pathogenicrs397515791GRCh37Chr 15, 48779559: 48779559
202FBN1NM_000138.4(FBN1): c.3463+1G> Tsingle nucleotide variantPathogenicrs397515792GRCh37Chr 15, 48779508: 48779508
203FBN1NM_000138.4(FBN1): c.368G> A (p.Cys123Tyr)single nucleotide variantPathogenicrs397515794GRCh37Chr 15, 48892410: 48892410
204FBN1NM_000138.4(FBN1): c.3848A> C (p.Glu1283Ala)single nucleotide variantLikely pathogenicrs397515796GRCh37Chr 15, 48773968: 48773968
205FBN1NM_000138.4(FBN1): c.3886T> C (p.Cys1296Arg)single nucleotide variantLikely pathogenicrs397515797GRCh37Chr 15, 48773930: 48773930
206FBN1NM_000138.4(FBN1): c.4016G> C (p.Cys1339Ser)single nucleotide variantLikely pathogenicrs397515798GRCh37Chr 15, 48766796: 48766796
207FBN1NM_000138.4(FBN1): c.4048T> A (p.Cys1350Ser)single nucleotide variantLikely pathogenicrs397515799GRCh37Chr 15, 48766764: 48766764
208FBN1NM_000138.4(FBN1): c.4160A> G (p.Tyr1387Cys)single nucleotide variantLikely pathogenicrs397515801GRCh37Chr 15, 48766502: 48766502
209FBN1NM_000138.4(FBN1): c.4222T> C (p.Cys1408Arg)single nucleotide variantPathogenicrs397515802GRCh37Chr 15, 48764862: 48764862
210FBN1NM_000138.4(FBN1): c.4251_4259delTGGCCAGTG (p.Gly1418_Cys1420del)deletionLikely pathogenicrs397515803GRCh37Chr 15, 48764825: 48764833
211FBN1NM_000138.4(FBN1): c.4259G> A (p.Cys1420Tyr)single nucleotide variantLikely pathogenic, Pathogenicrs397515804GRCh37Chr 15, 48764825: 48764825
212FBN1NM_000138.4(FBN1): c.4367G> A (p.Cys1456Tyr)single nucleotide variantLikely pathogenicrs397515805GRCh37Chr 15, 48762923: 48762923
213FBN1NM_000138.4(FBN1): c.4364T> G (p.Ile1455Ser)single nucleotide variantLikely pathogenicrs397515807GRCh37Chr 15, 48762926: 48762926
214FBN1NM_000138.4(FBN1): c.4367G> C (p.Cys1456Ser)single nucleotide variantPathogenicrs397515805GRCh37Chr 15, 48762923: 48762923
215FBN1NM_000138.4(FBN1): c.4406G> C (p.Arg1469Pro)single nucleotide variantLikely pathogenicrs397515808GRCh37Chr 15, 48762884: 48762884
216FBN1NM_000138.4(FBN1): c.4505G> A (p.Cys1502Tyr)single nucleotide variantLikely pathogenicrs397515810GRCh37Chr 15, 48760686: 48760686
217FBN1NM_000138.4(FBN1): c.4531T> C (p.Cys1511Arg)single nucleotide variantLikely pathogenicrs397515811GRCh37Chr 15, 48760660: 48760660
218FBN1NM_000138.4(FBN1): c.4567C> T (p.Arg1523Ter)single nucleotide variantLikely pathogenicrs397515812GRCh37Chr 15, 48760624: 48760624
219FBN1NM_000138.4(FBN1): c.4615C> T (p.Arg1539Ter)single nucleotide variantPathogenicrs111231312GRCh37Chr 15, 48760267: 48760267
220FBN1NM_000138.4(FBN1): c.4781G> A (p.Gly1594Asp)single nucleotide variantLikely pathogenic, Pathogenicrs267606798GRCh37Chr 15, 48758022: 48758022
221FBN1NM_000138.4(FBN1): c.4937G> A (p.Cys1646Tyr)single nucleotide variantLikely pathogenicrs397515814GRCh37Chr 15, 48757770: 48757770
222FBN1NM_000138.4(FBN1): c.493C> T (p.Arg165Ter)single nucleotide variantPathogenicrs113905529GRCh37Chr 15, 48888525: 48888525
223FBN1NM_000138.4(FBN1): c.4942G> A (p.Asp1648Asn)single nucleotide variantLikely pathogenicrs397515816GRCh37Chr 15, 48757765: 48757765
224FBN1NM_000138.4(FBN1): c.4955G> A (p.Cys1652Tyr)single nucleotide variantPathogenicrs397515817GRCh37Chr 15, 48756206: 48756206
225FBN1NM_000138.4(FBN1): c.497G> C (p.Cys166Ser)single nucleotide variantLikely pathogenicrs397515818GRCh37Chr 15, 48888521: 48888521
226FBN1NM_000138.4(FBN1): c.5066-1G> Csingle nucleotide variantPathogenicrs397515819GRCh37Chr 15, 48755438: 48755438
227FBN1NM_000138.4(FBN1): c.5251C> T (p.Gln1751Ter)single nucleotide variantLikely pathogenicrs397515820GRCh37Chr 15, 48752488: 48752488
228FBN1NM_000138.4(FBN1): c.529T> C (p.Cys177Arg)single nucleotide variantLikely pathogenicrs363853GRCh37Chr 15, 48888489: 48888489
229FBN1NM_000138.4(FBN1): c.5368C> T (p.Arg1790Ter)single nucleotide variantPathogenicrs113249837GRCh37Chr 15, 48748888: 48748888
230FBN1NM_000138.4(FBN1): c.5437C> T (p.Gln1813Ter)single nucleotide variantLikely pathogenicrs397515821GRCh37Chr 15, 48744867: 48744867
231FBN1NM_000138.4(FBN1): c.5504G> A (p.Cys1835Tyr)single nucleotide variantLikely pathogenic, Pathogenicrs111929350GRCh37Chr 15, 48744800: 48744800
232FBN1NM_000138.4(FBN1): c.5512G> T (p.Gly1838Cys)single nucleotide variantPathogenicrs397515823GRCh37Chr 15, 48744792: 48744792
233FBN1NM_000138.4(FBN1): c.5588G> A (p.Gly1863Glu)single nucleotide variantLikely pathogenicrs113086760GRCh37Chr 15, 48741048: 48741048
234FBN1NM_000138.4(FBN1): c.561delT (p.Phe187Leufs)deletionLikely pathogenicrs397515825GRCh37Chr 15, 48829983: 48829983
235FBN1NM_000138.4(FBN1): c.5721C> G (p.Asn1907Lys)single nucleotide variantLikely pathogenicrs397515826GRCh37Chr 15, 48738970: 48738970
236FBN1NM_000138.4(FBN1): c.5747G> A (p.Cys1916Tyr)single nucleotide variantLikely pathogenicrs397515827GRCh37Chr 15, 48738944: 48738944
237FBN1NM_000138.4(FBN1): c.5863C> T (p.Gln1955Ter)single nucleotide variantPathogenicrs363807GRCh37Chr 15, 48737627: 48737627
238FBN1NM_000138.4(FBN1): c.5788+5G> Asingle nucleotide variantPathogenicrs193922219GRCh37Chr 15, 48738898: 48738898
239FBN1NM_000138.4(FBN1): c.5840G> A (p.Cys1947Tyr)single nucleotide variantLikely pathogenicrs397515828GRCh37Chr 15, 48737650: 48737650
240FBN1NM_000138.4(FBN1): c.5869C> T (p.Gln1957Ter)single nucleotide variantLikely pathogenicrs397515829GRCh37Chr 15, 48737621: 48737621
241FBN1NM_000138.4(FBN1): c.6119G> A (p.Cys2040Tyr)single nucleotide variantLikely pathogenicrs397515830GRCh37Chr 15, 48733962: 48733962
242FBN1NM_000138.4(FBN1): c.6289G> T (p.Glu2097Ter)single nucleotide variantLikely pathogenicrs397515831GRCh37Chr 15, 48729989: 48729989
243FBN1NM_000138.4(FBN1): c.6379+1G> Asingle nucleotide variantLikely pathogenicrs397515833GRCh37Chr 15, 48729518: 48729518
244FBN1NM_000138.4(FBN1): c.643C> T (p.Arg215Ter)single nucleotide variantPathogenicrs111687884GRCh37Chr 15, 48829901: 48829901
245FBN1NM_000138.4(FBN1): c.6515_6516delTTinsG (p.Val2172Glyfs)indelLikely pathogenicrs397515834GRCh37Chr 15, 48726891: 48726892
246FBN1NM_000138.4(FBN1): c.6617-9_6617-8delinsAGindelLikely pathogenicrs397515835GRCh37Chr 15, 48725193: 48725194
247FBN1NM_000138.4(FBN1): c.6630T> G (p.Cys2210Trp)single nucleotide variantLikely pathogenicrs397515836GRCh37Chr 15, 48725172: 48725172
248FBN1NM_000138.4(FBN1): c.6656T> C (p.Phe2219Ser)single nucleotide variantLikely pathogenicrs397515837GRCh37Chr 15, 48725146: 48725146
249FBN1NM_000138.4(FBN1): c.6658C> T (p.Arg2220Ter)single nucleotide variantLikely pathogenic, Pathogenicrs113001196GRCh37Chr 15, 48725144: 48725144
250FBN1NM_000138.4(FBN1): c.6841C> T (p.Gln2281Ter)single nucleotide variantLikely pathogenicrs397515840GRCh37Chr 15, 48722898: 48722898
251FBN1NM_000138.4(FBN1): c.6920G> A (p.Cys2307Tyr)single nucleotide variantLikely pathogenicrs137854457GRCh37Chr 15, 48720620: 48720620
252FBN1NM_000138.4(FBN1): c.7094G> A (p.Cys2365Tyr)single nucleotide variantLikely pathogenicrs397515845GRCh37Chr 15, 48719874: 48719874
253FBN1NM_000138.4(FBN1): c.7167_7168delCT (p.Cys2390Serfs)deletionPathogenicrs397515846GRCh37Chr 15, 48719800: 48719801
254FBN1NM_000138.4(FBN1): c.7168T> C (p.Cys2390Arg)single nucleotide variantLikely pathogenicrs397515847GRCh37Chr 15, 48719800: 48719800
255FBN1NM_000138.4(FBN1): c.7180C> T (p.Arg2394Ter)single nucleotide variantPathogenicrs397515848GRCh37Chr 15, 48719788: 48719788
256FBN1NM_000138.4(FBN1): c.7453+1G> Tsingle nucleotide variantLikely pathogenicrs397515851GRCh37Chr 15, 48717565: 48717565
257FBN1NM_000138.4(FBN1): c.7497_7498delAT (p.Val2501Terfs)deletionLikely pathogenicrs397515852GRCh37Chr 15, 48714221: 48714222
258FBN1NM_000138.4(FBN1): c.7580A> C (p.Glu2527Ala)single nucleotide variantLikely pathogenicrs397515853GRCh37Chr 15, 48713874: 48713874
259FBN1NM_000138.4(FBN1): c.7606G> A (p.Gly2536Arg)single nucleotide variantPathogenicrs397515854GRCh37Chr 15, 48713848: 48713848
260FBN1NM_000138.4(FBN1): c.7955G> A (p.Cys2652Tyr)single nucleotide variantLikely pathogenic, Pathogenicrs397515859GRCh37Chr 15, 48707829: 48707829
261FBN1NM_000138.4(FBN1): c.8267G> A (p.Trp2756Ter)single nucleotide variantPathogenicrs397515861GRCh37Chr 15, 48703536: 48703536
262FBN1NM_000138.4(FBN1): c.8378A> G (p.Tyr2793Cys)single nucleotide variantLikely pathogenicrs397515863GRCh37Chr 15, 48703425: 48703425
263FBN1NM_000138.4(FBN1): c.8483C> G (p.Ser2828Ter)single nucleotide variantLikely pathogenicrs397515864GRCh37Chr 15, 48703320: 48703320
264FBN1NM_000138.4(FBN1): c.8600A> C (p.Gln2867Pro)single nucleotide variantLikely pathogenicrs397515865GRCh37Chr 15, 48703203: 48703203
265FBN1NM_000138.4(FBN1): c.8605_8606delTT (p.Leu2869Alafs)deletionLikely pathogenicrs397515866GRCh37Chr 15, 48703197: 48703198
266FBN1NM_000138.4(FBN1): c.958dupT (p.Tyr320Leufs)duplicationPathogenicrs397515867GRCh37Chr 15, 48818357: 48818357

Copy number variations for Marfan Syndrome from CNVD:

6
id CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
192862154480000049500000DeletionFBN1Marfan syndrome

Expression for genes affiliated with Marfan Syndrome

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Search GEO for disease gene expression data for Marfan Syndrome.

Pathways for genes affiliated with Marfan Syndrome

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Pathways related to Marfan Syndrome according to GeneCards Suite gene sharing:

(show all 39)
idSuper pathwaysScoreTop Affiliating Genes
19.9TGFBR1, TGFBR2
2
Show member pathways
9.5TGFB1, TGFBR1, TGFBR2
39.5TGFB1, TGFBR1, TGFBR2
4
Show member pathways
9.5TGFB1, TGFBR1, TGFBR2
59.5TGFB1, TGFBR1, TGFBR2
69.5TGFB1, TGFBR1, TGFBR2
79.5TGFB1, TGFBR1, TGFBR2
8
Show member pathways
9.5TGFB1, TGFBR1, TGFBR2
99.5TGFB1, TGFBR1, TGFBR2
10
Show member pathways
9.5TGFB1, TGFBR1, TGFBR2
11
Show member pathways
9.5TGFB1, TGFBR1, TGFBR2
12
Show member pathways
9.5TGFB1, TGFBR1, TGFBR2
139.5TGFB1, TGFBR1, TGFBR2
149.5TGFB1, TGFBR1, TGFBR2
15
Show member pathways
9.5TGFB1, TGFBR1, TGFBR2
169.5TGFB1, TGFBR1, TGFBR2
179.5TGFB1, TGFBR1, TGFBR2
18
Show member pathways
9.5TGFB1, TGFBR1, TGFBR2
199.3COL1A2, DCN, MMP2
20
Show member pathways
9.2MMP2, TGFB1, TGFBR1
21
Show member pathways
9.1DCN, TGFB1, TGFBR1, TGFBR2
229.0BMP6, TGFB1, TGFBR1, TGFBR2
23
Show member pathways
9.0ELN, FBN1, FBN2, LTBP2, TGFB1
24
Show member pathways
8.9MMP2, TGFB1, TGFBR1, TGFBR2
25
Show member pathways
8.9MMP2, TGFB1, TGFBR1, TGFBR2
268.9MMP2, TGFB1, TGFBR1, TGFBR2
27
Show member pathways
8.7BMP6, LTBP2, TGFB1, TGFBR1, TGFBR2
28
Show member pathways
8.6BMP6, DCN, TGFB1, TGFBR1, TGFBR2
298.6ACTA2, BMP6, DCN, TGFB1
30
Show member pathways
8.2AGTR1, BMP6, LTBP2, TGFB1, TGFBR1
31
Show member pathways
8.1ACTA2, BMP6, LTBP2, TGFB1, TGFBR1, TGFBR2
328.1AGTR1, MMP2, TGFB1, TGFBR1, TGFBR2
33
Show member pathways
7.9AGTR1, BMP6, LTBP2, TGFB1, TGFBR1, TGFBR2
347.9ACTA2, BMP6, MMP2, TGFB1, TGFBR1, TGFBR2
357.8AGTR1, COL1A2, MMP2, TGFB1, TGFBR1, TGFBR2
36
Show member pathways
7.8COL1A2, DCN, ELN, FBN1, FBN2, LTBP2
37
Show member pathways
7.2ACTA2, BMP6, COL1A2, ELN, FBN1, FBN2
38
Show member pathways
7.2ACTA2, COL1A2, ELN, FBN1, FBN2, MMP2
39
Show member pathways
7.0ACTA2, BMP6, COL1A2, ELN, FBN1, FBN2

GO Terms for genes affiliated with Marfan Syndrome

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Cellular components related to Marfan Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1microfibrilGO:000152710.7FBN1, FBN2
2transforming growth factor beta receptor homodimeric complexGO:007002210.4TGFBR1, TGFBR2
3proteinaceous extracellular matrixGO:00055788.6DCN, ELN, FBN1, LTBP2, MMP2, TGFB1
4extracellular matrixGO:00310128.3COL1A2, DCN, FBN1, FBN2, LTBP2, MMP2
5extracellular regionGO:00055767.7COL1A2, DCN, ELN, FBN1, FBN2, MMP2
6extracellular spaceGO:00056157.3ACTA2, BMP6, COL1A2, DCN, FBN1, LTBP2

Biological processes related to Marfan Syndrome according to GeneCards Suite gene sharing:

(show all 25)
idNameGO IDScoreTop Affiliating Genes
1sequestering of TGFbeta in extracellular matrixGO:003558310.6FBN1, FBN2
2embryonic eye morphogenesisGO:004804810.5FBN1, FBN2
3positive regulation of epithelial to mesenchymal transition involved in endocardial cushion formationGO:190500710.5TGFBR1, TGFBR2
4common-partner SMAD protein phosphorylationGO:000718210.4TGFB1, TGFBR2
5cellular response to insulin-like growth factor stimulusGO:199031410.2FBN1, TGFB1
6bone trabecula formationGO:006034610.2FBN2, MMP2
7regulation of cellular response to growth factor stimulusGO:009028710.1FBN1, FBN2
8myeloid dendritic cell differentiationGO:004301110.1TGFB1, TGFBR2
9pathway-restricted SMAD protein phosphorylationGO:006038910.0TGFB1, TGFBR1, TGFBR2
10response to cholesterolGO:007072310.0TGFB1, TGFBR1, TGFBR2
11positive regulation of bone mineralizationGO:00305019.9BMP6, FBN2, TGFB1
12positive regulation of epithelial to mesenchymal transitionGO:00107189.8TGFB1, TGFBR1, TGFBR2
13animal organ morphogenesisGO:00098879.8DCN, ELN, TGFBR2
14positive regulation of cellular protein metabolic processGO:00322709.7AGTR1, TGFB1
15positive regulation of pathway-restricted SMAD protein phosphorylationGO:00108629.6BMP6, TGFB1, TGFBR1
16positive regulation of SMAD protein import into nucleusGO:00603919.6BMP6, TGFB1, TGFBR1
17negative regulation of transforming growth factor beta receptor signaling pathwayGO:00305129.6TGFB1, TGFBR1, TGFBR2
18cellular response to transforming growth factor beta stimulusGO:00715609.6FBN1, TGFB1, TGFBR1
19germ cell migrationGO:00083549.4TGFB1, TGFBR1
20transforming growth factor beta receptor signaling pathwayGO:00071799.4COL1A2, LTBP2, TGFB1, TGFBR1, TGFBR2
21skeletal system developmentGO:00015019.1BMP6, COL1A2, FBN1, TGFBR1
22wound healingGO:00420609.1DCN, TGFB1, TGFBR1, TGFBR2
23extracellular matrix disassemblyGO:00226179.0DCN, ELN, FBN1, FBN2, MMP2
24extracellular matrix organizationGO:00301988.9COL1A2, DCN, ELN, FBN1, FBN2
25kidney developmentGO:00018228.5AGTR1, BMP6, DCN, FBN1, TGFBR1

Molecular functions related to Marfan Syndrome according to GeneCards Suite gene sharing:

(show all 11)
idNameGO IDScoreTop Affiliating Genes
1transforming growth factor beta-activated receptor activityGO:000502410.6TGFBR1, TGFBR2
2extracellular matrix constituent conferring elasticityGO:003002310.6FBN1, FBN2
3growth factor bindingGO:001983810.6LTBP2, TGFBR1
4transforming growth factor beta bindingGO:005043110.6TGFBR1, TGFBR2
5type I transforming growth factor beta receptor bindingGO:003471310.6TGFB1, TGFBR2
6type II transforming growth factor beta receptor bindingGO:000511410.5TGFB1, TGFBR1
7glycosaminoglycan bindingGO:000553910.4DCN, TGFBR2
8extracellular matrix bindingGO:005084010.3DCN, ELN
9SMAD bindingGO:004633210.2COL1A2, TGFBR1, TGFBR2
10extracellular matrix structural constituentGO:000520110.0COL1A2, ELN, FBN1, FBN2
11protein bindingGO:00055155.4AGTR1, BMP6, CBS, COL1A2, DCN, ELN

Sources for Marfan Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
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28ICD10
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32KEGG
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